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. 2017 Feb 27;1:1. Originally published 2016 Nov 15. [Version 2] doi: 10.12688/wellcomeopenres.9899.2

Table 2A. Frequency of phenotypes identified in homozygous mutant embryos.

The Mammalian Phenotype Ontology terms describing phenotypes observed in each embryo were normalised to remove duplicates and the list then ranked in descending order by frequency of embryos exhibiting each phenotype.

MP ID MP term Frequency
MP:0013848 subcutaneous edema 64
MP:0004613 fusion of vertebral arches 61
MP:0010418 perimembraneous ventricular septal
defect
49
MP:0000783 abnormal forebrain morphology 47
MP:0003686 abnormal eye muscle morphology 45
MP:0001015 small superior cervical ganglion 45
MP:0010420 muscular ventricular septal defect 41
MP:0013835 absent hypoglossal nerve 37
MP:0003826 abnormal Mullerian duct
morphology
33
MP:0014021 heterochrony 33
MP:0004269 abnormal optic cup morphology 32
MP:0014001 abnormal vertebral artery topology 32
MP:0013836 abnormal hypoglossal nerve
topology
30
MP:0013876 absent ductus venosus valve 29
MP:0000284 double outlet right ventricle 29
MP:0004666 absent stapedial artery 28
MP:0013971 blood in lymph vessels 27
MP:0000703 abnormal thymus morphology 26
MP:0014000 anastomosis between internal
carotid artery and basilar artery
25
MP:0000602 enlarged liver sinusoidal spaces 25
MP:0013969 reduced sympathetic cervical
ganglion size
25
MP:0008923 thoracoschisis 25
MP:0004163 abnormal adenohypophysis
morphology
24
MP:0002237 abnormal nasal cavity morphology 20
MP:0013986 abnormal vitelline vein topology 20
MP:0013967 abnormal infrahyoid muscle
connection
18
MP:0004463 basisphenoid bone foramen 18
MP:0008128 abnormal brain internal capsule
morphology
16
MP:0000282 abnormal interatrial septum
morphology
16
MP:0004268 abnormal optic stalk morphology 16
MP:0013936 abnormal thymus topology 16
MP:0014017 abnormal Wolffian duct connection 15
MP:0013877 abnormal ductus venosus valve
morphology
15
MP:0002239 abnormal nasal septum morphology 15
MP:0000497 abnormal small intestine placement 15
MP:0000111 cleft palate 15
MP:0013859 abnormal vitelline vein connection 14
MP:0013826 absent hypoglossal canal 14
MP:0013840 absent segment of posterior
cerebral artery
14
MP:0013875 trigeminal neuroma 14
MP:0010496 abnormal pectinate muscle
morphology
13
MP:0013834 thin hypoglossal nerve 13
MP:0003827 abnormal Wolffian duct morphology 12
MP:0013842 ductus venosus stenosis 12
MP:0010912 herniated liver 12
MP:0013968 multiple persisting craniopharyngeal
ducts
12
MP:0011361 pelvic kidney 12
MP:0010572 persistent right dorsal aorta 12
MP:0002633 persistent truncus arteriosis 12
MP:0013931 abnormal olfactory bulb position 11
MP:0011683 dual inferior vena cava 11
MP:0000914 exencephaly 11
MP:0002169 no abnormal phenotype detected 11
MP:0000154 rib fusion 11
MP:0000161 scoliosis 11
MP:0004110 transposition of great arteries 11
MP:0012303 umbilical vein stenosis 11
MP:0008922 abnormal cervical rib 10
MP:0009917 abnormal hyoid bone body
morphology
10
MP:0009770 abnormal optic chiasm morphology 10
MP:0013844 abnormal perichondrial ossification 10
MP:0003345 decreased rib number 10
MP:0011493 double ureter 10
MP:0000445 short snout 10
MP:0002951 small thyroid gland 10
MP:0013878 abnormal ductus venosus valve
topology
9
MP:0000841 abnormal hindbrain morphology 9
MP:0010490 abnormal inferior vena cava valve
morphology
9
MP:0010853 abnormal lung position or
orientation
9
MP:0000141 abnormal vertebral body
morphology
9
MP:0002243 abnormal vomeronasal organ
morphology
9
MP:0013970 absent connection between
subcutaneous lymph vessels and
lymph sac
9
MP:0011667 double outlet right ventricle with
atrioventricular septal defect
9
MP:0014019 embryo cyst 9
MP:0013977 symmetric azygos veins 9
MP:0002092 abnormal eye morphology 8
MP:0014023 abnormal intestine placement 8
MP:0001303 abnormal lens morphology 8
MP:0000632 abnormal pineal gland morphology 8
MP:0010602 abnormal pulmonary valve cusp
morphology
8
MP:0013985 abnormal umbilical vein topology 8
MP:0013965 abnormally deep median sulcus of
tongue
8
MP:0010484 bicuspid aortic valve 8
MP:0004646 decreased cervical vertebrae
number
8
MP:0013915 abnormal brachial plexus formation 7
MP:0010436 abnormal coronary sinus
morphology
7
MP:0000819 abnormal olfactory bulb
morphology
7
MP:0009570 abnormal right lung morphology 7
MP:0003078 aphakia 7
MP:0003584 bifid ureter 7
MP:0013949 fusion of axis and occipital bones 7
MP:0013846 retropharyngeal edema 7
MP:0013847 retropleural edema 7
MP:0000153 rib bifurcation 7
MP:0002191 abnormal artery morphology 6
MP:0000079 abnormal basioccipital bone
morphology
6
MP:0000788 abnormal cerebral cortex
morphology
6
MP:0013995 abnormal external carotid artery
origin
6
MP:0013845 abnormal eye muscle topology 6
MP:0002858 abnormal posterior semicircular
canal morphology
6
MP:0000759 abnormal skeletal muscle
morphology
6
MP:0013871 abnormal stapedial artery topology 6
MP:0001146 abnormal testis morphology 6
MP:0000681 abnormal thyroid gland morphology 6
MP:0004599 abnormal vertebral arch
morphology
6
MP:0013996 abnormal vertebral artery origin 6
MP:0013849 absent abducens nerve 6
MP:0000520 absent kidney 6
MP:0009725 absent lens vesicle 6
MP:0006093 arteriovenous malformation 6
MP:0010412 atrioventricular septal defect 6
MP:0013932 fragmented Meckel's cartilage 6
MP:0000963 fused dorsal root ganglion 6
MP:0005157 holoprosencephaly 6
MP:0000480 increased rib number 6
MP:0013992 persistent dorsal ophthalmic artery 6
MP:0013952 retro-esophageal left subclavian
artery
6
MP:0004160 retroesophageal right subclavian
artery
6
MP:0004158 right aortic arch 6
MP:0020301 short tongue 6
MP:0002989 small kidney 6
MP:0013852 abnormal Mullerian duct topology 5
MP:0010595 abnormal aortic valve cusp
morphology
5
MP:0000297 abnormal atrioventricular cushion
morphology
5
MP:0013186 abnormal basilar artery morphology 5
MP:0002152 abnormal brain morphology 5
MP:0013874 abnormal ductus venosus topology 5
MP:0013945 abnormal elbow joint morphology 5
MP:0000559 abnormal femur morphology 5
MP:0006063 abnormal inferior vena cava
morphology
5
MP:0002135 abnormal kidney morphology 5
MP:0001879 abnormal lymphatic vessel
morphology
5
MP:0005236 abnormal olfactory nerve
morphology
5
MP:0000150 abnormal rib morphology 5
MP:0004539 absent maxilla 5
MP:0003451 absent olfactory bulb 5
MP:0001014 absent superior cervical ganglion 5
MP:0014003 additional anastomosis between
intracranial vertebral arteries
5
MP:0012548 myelocele 5
MP:0000273 overriding aortic valve 5
MP:0000964 small dorsal root ganglion 5
MP:0000694 spleen hypoplasia 5
MP:0013928 thin motoric part of trigeminal nerve 5
MP:0002199 abnormal brain commissure
morphology
4
MP:0006065 abnormal heart position or
orientation
4
MP:0002249 abnormal larynx morphology 4
MP:0009820 abnormal liver vasculature
morphology
4
MP:0005105 abnormal middle ear ossicle
morphology
4
MP:0004164 abnormal neurohypophysis
morphology
4
MP:0013994 abnormal parasellar internal carotid
artery branch morphology
4
MP:0000633 abnormal pituitary gland
morphology
4
MP:0013980 abnormal pulmonary artery origin 4
MP:0011655 abnormal systemic artery
morphology
4
MP:0011513 abnormal vertebral artery
morphology
4
MP:0013855 absent celiac artery 4
MP:0013833 absent olfactory nerve 4
MP:0013362 absent pineal gland 4
MP:0014006 absent posterior communicating
artery
4
MP:0013913 absent rib-vertebral column
attachment
4
MP:0004846 absent skeletal muscle 4
MP:0004603 absent vertebral arch 4
MP:0010440 anomalous pulmonary venous
connection
4
MP:0010530 cerebral arteriovenous malformation 4
MP:0010589 common truncal valve 4
MP:0003924 diaphragmatic hernia 4
MP:0003253 dilated bile duct 4
MP:0013879 duplication of ductus venosus 4
MP:0008534 enlarged fourth ventricle 4
MP:0004612 fusion of vertebral bodies 4
MP:0001914 hemorrhage 4
MP:0003262 intestinal/bowel diverticulum 4
MP:0010404 ostium primum atrial septal defect 4
MP:0013917 persistent right 6th pharyngeal arch
artery
4
MP:0000562 polydactyly 4
MP:0001088 small nodose ganglion 4
MP:0013827 thin oculomotor nerve 4
MP:0013858 abnormal azygos vein topology 3
MP:0002928 abnormal bile duct morphology 3
MP:0008026 abnormal brain white matter
morphology
3
MP:0004607 abnormal cervical atlas morphology 3
MP:0000820 abnormal choroid plexus
morphology
3
MP:0013873 abnormal ductus venosus
morphology
3
MP:0010439 abnormal hepatic vein morphology 3
MP:0000823 abnormal lateral ventricle
morphology
3
MP:0000598 abnormal liver morphology 3
MP:0000897 abnormal midbrain morphology 3
MP:0013861 abnormal pancreas topology 3
MP:0000613 abnormal salivary gland
morphology
3
MP:0013943 abnormal ureter topology 3
MP:0001100 abnormal vagus ganglion
morphology
3
MP:0014002 absent extracranial vertebral artery
segment
3
MP:0013929 absent eye muscles 3
MP:0003722 absent ureter 3
MP:0000138 absent vertebrae 3
MP:0000640 adrenal gland hypoplasia 3
MP:0005262 coloboma 3
MP:0010433 double inlet heart left ventricle 3
MP:0001785 edema 3
MP:0000274 enlarged heart 3
MP:0006203 eye hemorrhage 3
MP:0005244 hemopericardium 3
MP:0013843 hepatic portal vein stenosis 3
MP:0011659 interrupted aortic arch, type b 3
MP:0013948 intraembryonal intestine elongation 3
MP:0013963 jugular vein stenosis 3
MP:0000692 small spleen 3
MP:0001093 small trigeminal ganglion 3
MP:0013828 thin facial nerve 3
MP:0004057 thin myocardium compact layer 3
MP:0003617 urinary bladder hypoplasia 3
MP:0013851 abnormal Wolffian duct topology 2
MP:0013857 abnormal abdominal muscle
morphology
2
MP:0004113 abnormal aortic arch morphology 2
MP:0002747 abnormal aortic valve morphology 2
MP:0004181 abnormal carotid artery morphology 2
MP:0013978 abnormal carotid artery origin 2
MP:0013975 abnormal coronary sinus
connection
2
MP:0002279 abnormal diaphragm morphology 2
MP:0013815 abnormal digastric muscle
morphology
2
MP:0013865 abnormal dorsal pancreas topology 2
MP:0000961 abnormal dorsal root ganglion
morphology
2
MP:0013950 abnormal dorsal root ganglion
topology
2
MP:0006011 abnormal endolymphatic duct
morphology
2
MP:0013918 abnormal endolymphatic sac
topology
2
MP:0006033 abnormal external auditory canal
morphology
2
MP:0000266 abnormal heart morphology 2
MP:0003056 abnormal hyoid bone morphology 2
MP:0013966 abnormal infrahyoid muscle
morphology
2
MP:0000489 abnormal large intestine
morphology
2
MP:0008986 abnormal liver parenchyma
morphology
2
MP:0001175 abnormal lung morphology 2
MP:0000458 abnormal mandible morphology 2
MP:0003632 abnormal nervous system
morphology
2
MP:0001330 abnormal optic nerve morphology 2
MP:0002177 abnormal outer ear morphology 2
MP:0000492 abnormal rectum morphology 2
MP:0002428 abnormal semicircular canal
morphology
2
MP:0002746 abnormal semilunar valve
morphology
2
MP:0000496 abnormal small intestine
morphology
2
MP:0005107 abnormal stapes morphology 2
MP:0003230 abnormal umbilical artery
morphology
2
MP:0002725 abnormal vein morphology 2
MP:0009707 absent external auditory canal 2
MP:0013987 absent intrahepatic inferior vena
cava segment
2
MP:0009771 absent optic chiasm 2
MP:0013999 absent parasellar internal carotid
artery
2
MP:0013809 absent pectinate muscle 2
MP:0004571 absent vagus nerve 2
MP:0000140 absent vertebral pedicles 2
MP:0003130 anal atresia 2
MP:0010463 aorta stenosis 2
MP:0004055 atrium hypoplasia 2
MP:0010406 common atrium 2
MP:0003586 dilated ureter 2
MP:0013981 double lumen aortic arch 2
MP:0014018 embryo tumor 2
MP:0010200 enlarged lymphatic vessel 2
MP:0008536 enlarged third ventricle 2
MP:0002015 epithelioid cysts 2
MP:0004201 fetal growth retardation 2
MP:0010977 fused right lung lobes 2
MP:0010728 fusion of atlas and occipital bones 2
MP:0013982 inverse situs of great intrathoracic
arteries
2
MP:0010647 left atrium hypoplasia 2
MP:0000600 liver hypoplasia 2
MP:0000618 small salivary gland 2
MP:0001102 small superior vagus ganglion 2
MP:0000706 small thymus 2
MP:0011249 abdominal situs inversus 1
MP:0000639 abnormal adrenal gland
morphology
1
MP:0010592 abnormal atrioventricular septum
morphology
1
MP:0002745 abnormal atrioventricular valve
morphology
1
MP:0001614 abnormal blood vessel morphology 1
MP:0000494 abnormal cecum morphology 1
MP:0013862 abnormal cecum position 1
MP:0010744 abnormal cervical flexure
morphology
1
MP:0003048 abnormal cervical vertebrae
morphology
1
MP:0009495 abnormal common bile duct
morphology
1
MP:0012729 abnormal common carotid artery
morphology
1
MP:0013930 abnormal digastric muscle
connection
1
MP:0004252 abnormal direction of heart looping 1
MP:0014022 abnormal duodenum topology 1
MP:0013924 abnormal dural venous sinus
morphology
1
MP:0013927 abnormal facial nerve topology 1
MP:0006107 abnormal fetal atrioventricular canal
morphology
1
MP:0000828 abnormal fourth ventricle
morphology
1
MP:0005084 abnormal gallbladder morphology 1
MP:0003105 abnormal heart atrium morphology 1
MP:0003922 abnormal heart right atrium
morphology
1
MP:0013814 abnormal hepatic portal vein
connection
1
MP:0013853 abnormal hepatic portal vein
formation
1
MP:0010668 abnormal hepatic portal vein
morphology
1
MP:0013973 abnormal hepatic vein connection 1
MP:0005296 abnormal humerus morphology 1
MP:0009913 abnormal hyoid bone greater horn
morphology
1
MP:0013824 abnormal hypoglossal canal
morphology
1
MP:0002859 abnormal inner ear canal fusion 1
MP:0009804 abnormal interventricular foramen
morphology
1
MP:0000281 abnormal interventricular septum
morphology
1
MP:0000477 abnormal intestine morphology 1
MP:0013976 abnormal left vena cava superior
connection
1
MP:0004881 abnormal lung size 1
MP:0013841 abnormal lymphatic vessel topology 1
MP:0003792 abnormal major salivary gland
morphology
1
MP:0000455 abnormal maxilla morphology 1
MP:0000452 abnormal mouth morphology 1
MP:0002108 abnormal muscle morphology 1
MP:0004056 abnormal myocardium compact
layer morphology
1
MP:0005269 abnormal occipital bone
morphology
1
MP:0013818 abnormal oral cavity morphology 1
MP:0014011 abnormal ovary tissue architecture 1
MP:0004509 abnormal pelvic girdle bone
morphology
1
MP:0002748 abnormal pulmonary valve
morphology
1
MP:0009571 abnormal right lung accessory lobe
morphology
1
MP:0009688 abnormal spinal cord central canal
morphology
1
MP:0008023 abnormal styloid process
morphology
1
MP:0013979 abnormal subclavian artery origin 1
MP:0001011 abnormal superior cervical ganglion
morphology
1
MP:0000787 abnormal telencephalon
morphology
1
MP:0005272 abnormal temporal bone
morphology
1
MP:0000826 abnormal third ventricle
morphology
1
MP:0002368 abnormal thymus capsule
morphology
1
MP:0002282 abnormal trachea morphology 1
MP:0001065 abnormal trigeminal nerve
morphology
1
MP:0010667 abnormal umbilical vein
morphology
1
MP:0000534 abnormal ureter morphology 1
MP:0013925 abnormal vascular plexus formation 1
MP:0000137 abnormal vertebrae morphology 1
MP:0005274 abnormal viscerocranium
morphology
1
MP:0010666 abnormal vitelline vein morphology 1
MP:0014004 absent basilar artery segment 1
MP:0008129 absent brain internal capsule 1
MP:0013998 absent canalicular internal carotid
artery segment
1
MP:0008460 absent dorsal root ganglion 1
MP:0013880 absent ductus venosus 1
MP:0013914 absent intracranial segment of
vertebral artery
1
MP:0013937 absent lobe of thyroid gland 1
MP:0000629 absent mammary gland 1
MP:0013926 absent neurohypophysis 1
MP:0013988 absent portal vein segment 1
MP:0013850 absent posterior commissure 1
MP:0000614 absent salivary gland 1
MP:0013823 absent segment of anterior cerebral
artery
1
MP:0000690 absent spleen 1
MP:0008386 absent styloid process 1
MP:0002728 absent tibia 1
MP:0009905 absent tongue 1
MP:0001064 absent trochlear nerve 1
MP:0013595 absent vomeronasal organ 1
MP:0013860 anastomosis between common
carotid and vertebral artery
1
MP:0014009 anastomosis between middle
cerebral arteries
1
MP:0001293 anophthalmia 1
MP:0003387 aorta coarctation 1
MP:0006135 artery stenosis 1
MP:0000705 athymia 1
MP:0010403 atrial septal defect 1
MP:0013935 basal brain tissue herniation 1
MP:0010527 bicuspid pulmonary valve 1
MP:0011797 blind ureter 1
MP:0010607 common atrioventricular valve 1
MP:0004686 decreased length of long bones 1
MP:0009532 decreased parotid gland size 1
MP:0004648 decreased thoracic vertebrae
number
1
MP:0011965 decreased total retina thickness 1
MP:0001247 dermal cysts 1
MP:0000825 dilated lateral ventricles 1
MP:0009144 dilated pancreatic duct 1
MP:0004938 dilated vasculature 1
MP:0011380 enlarged brain ventricles 1
MP:0013864 enlarged paraumbilical vein 1
MP:0003595 epididymal cyst 1
MP:0002947 increased hemangioma incidence 1
MP:0001634 internal hemorrhage 1
MP:0011974 intestinal stenosis 1
MP:0001916 intracerebral hemorrhage 1
MP:0003178 left pulmonary isomerism 1
MP:0013953 left sided brachiocephalic trunk 1
MP:0003327 liver cysts 1
MP:0003888 liver hemorrhage 1
MP:0000162 lordosis 1
MP:0010854 lung situs inversus 1
MP:0005287 narrow eye opening 1
MP:0004442 occipital bone foramen 1
MP:0000565 oligodactyly 1
MP:0006221 optic nerve hypoplasia 1
MP:0013933 short Meckel's cartilage 1
MP:0002766 situs inversus 1
MP:0002768 small adrenal glands 1
MP:0001306 small lens 1
MP:0013923 small prevertebral sympathetic
ganglia
1
MP:0006254 thin cerebral cortex 1
MP:0013829 thin splanchnic nerve 1
MP:0013832 thin vagus nerve 1
MP:0003499 thyroid hypoplasia 1
MP:0009904 tongue hypoplasia 1
MP:0011697 vacuolated lens 1
MP:0013831 vagus nerve compression 1
MP:0004609 vertebral fusion 1