Mks1krc x Bbs4-/-
|
Genotype |
Mks1krc/+; Bbs4+/-
|
Mks1krc/krc
|
Bbs4-/-
|
Mks1krc/krc; Bbs4-/-
|
Embryonic Lethal? |
No |
Yes. Variable: E13.5-E17.5[39] |
No |
Yes. E13.5 |
Neural Patterning |
Normal |
Slight alterations: dorsal expansion of motor neurons, reduction of Nkx2.2. Varies along A-P axis[39] |
Normal |
Reduced Nkx2.2, ventral shift of motor neurons. |
Limbs |
Normal |
Pre-axial polydactyly in ~50% on at least 1 limb |
Normal |
Polydactyly in all embryos, all 4 limbs |
Cilia Number |
Normal |
Reduced by ~60% compared to WT |
Normal |
Similar to Mks1krc/krc. Lack of ARL13b and other cilia membrane proteins |
Mkskrc x Ift172avc1
|
Genotype |
Mks1krc/+; Ift172avc1/+
|
Mks1krc/krc
|
Ift172avc1/avc1
|
Mks1krc/krc; Ift172avc1/avc1
|
Embryonic Lethal? |
No |
Yes. Variable: E13.5-E17.5[39] |
Perinatal lethal |
Yes. E10.5 |
Neural Patterning |
Normal |
Slight alterations: dorsal expansion of motor neurons, reduction of Nkx2.2. Varies along A-P axis[39] |
Normal in brachial spinal cord, in lumbar region, motor neurons expanded dorsally [46] |
Loss of ventral cell types, motor neurons strongly reduced |
Limbs |
Normal |
Pre-axial polydactyly in ~50% on at least 1 limb |
Fully penetrant forelimb polydactyly[40] |
N/A (Embryos die prior to digit formation.) |
Cilia Number |
Normal |
Reduced by ~50–60% compared to WT |
Similar to WT |
Strongly reduced. |
Mks1krc x Dync2h1mmi
|
Genotype |
Mks1krc/+; Dync2h1mmi/+
|
Mks1krc/krc
|
Dync2h1mmi/mmi
|
Mks1krc/krc; Dync2h1mmi/mmi
|
Embryonic Lethal? |
No |
Yes. Variable: E13.5-E17.5[39] |
Yes, E10.5 |
Yes, E10.5 |
Neural Patterning |
Normal |
Slight alterations: dorsal expansion of motor neurons, reduction of Nkx2.2. Varies along A-P axis [39]. |
Loss of ventral cell types, motor neurons present but reduced. |
Loss of ventral cell types, motor neurons strongly reduced. |
Cilia Number |
Normal |
Reduced by ~60% compared to WT |
Similar to WT, with structural abnormalities. |
Strongly reduced. |
Bbs4-/- x Ift172avc1
|
Genotype |
Bbs4+/-; Ift172avc1/+
|
Bbs4-/-
|
Ift172avc1/avc1
|
Bbs4-/-; Ift172avc1/avc1
|
Embryonic Lethal? |
No |
No |
Perinatal lethal |
Perinatal lethal |
Neural Patterning |
Normal |
Normal |
Normal in brachial spinal cord, in lumbar region, motor neurons expanded dorsally [46] |
Similar to Ift172avc1/avc1 single mutants |
Cilia Number |
Normal |
Normal |
Similar to WT |
Similar to WT |