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. 2013 Aug 14;1:e26144. doi: 10.4161/rdis.26144

Table 1. Comparison of human phenotype with different mice genotype for NMHC IIB.

Organ system Human HMHC IIB-B-/B- mice NMHC IIB BR709C/BR709C mice
Perinatal
Intrauterine growth restriction (IUGR), oligohydramnios, unilateral multycystic dysplastic kidney
Intrauterine growth restriction. Perinatal lethal by E14.5
Mostly perinatal lethal by E14.5, IUGR
Central nervous system
Microcephaly, small cerebellar cortex, small cerebellum and hydrocephalus
Dome shaped head, hydrocephalus, disorders of neuronal migration, small cerebellum
Microcephaly, small and underdeveloped cerebellum, abnormalities in the cerebellar foliation pattern
Heart (Gross)
No phenotype
Abnormal rounded shape of the heart, defect in the membranous portion of the ventricular system, narrowing of RVOT by hypertrophied muscle, malposition of the aorta to the right, overriding aorta
Double outlet right ventricle and ventricular septal defect
Heart (Microscopic)
No phenotype
Marked myocyte hypertrophy (increase in transverse myocyte diameter) from E12.5
Cardiac myocyte hypertrophy
Diaphragm
Silent congenital diaphragmatic hernia
Failure of the ventral wall closure including anterior congenital diaphragmatic hernia
 
Other Bilateral undescended testicles, congenital hip dysplasia Retinal dysplasia with rosette formation