Phenotypes Associated with This Genotype

Genotype
MGI:4942392

• Allelic Composition: Ift80^{Gt(AN0245)Wtsi}/Ift80^{Gt(AN0245)Wtsi}
• Genetic Background: involves: 129P2/OlaHsd

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

lethality, incomplete penetrance ( J:169236 )

• fewer than expected mice are present at P0

perinatal lethality, incomplete penetrance ( J:169236 )

• fewer than expected mice are present at P0

skeleton

abnormal cranium morphology ( J:169236 )

• flattened in the anterior posterior axis

small cranium ( J:169236 )

abnormal long bone hypertrophic chondrocyte zone ( J:169236 )

• the hypertrophic chondrocyte zone is poorly organized and smaller than in wild-type mice

decreased width of hypertrophic chondrocyte zone ( J:169236 )

disorganized long bone epiphyseal plate ( J:169236 )

decreased length of long bones ( J:169236 )

• shortening is slightly more severe in distal rather than proximal limb elements

abnormal rib morphology ( J:169236 )

• ribs exhibit an irregular margin between bone and cartilage compared with wild-type mice

abnormal thoracic cage shape ( J:169236 )

• thoracic cages are constricted compared to in wild-type mice

limbs/digits/tail

preaxial polydactyly ( J:169236 )

• bilateral in hind limbs with a single extra digit longer than other digits

growth/size/body

growth/size/body region phenotype ( J:169236 )

N • mice exhibit normal sidedness, indicating normal ciliary function

decreased birth body size ( J:169236 )

postnatal growth retardation ( J:169236 )

renal/urinary system

renal/urinary system phenotype ( J:169236 )

N • at P21, mice exhibit normal kidney morphology

vision/eye

vision/eye phenotype ( J:169236 )

N • at P21, mice exhibit normal retina layers

craniofacial

abnormal cranium morphology ( J:169236 )

• flattened in the anterior posterior axis

small cranium ( J:169236 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
asphyxiating thoracic dystrophy 2		DOID:0110086	OMIM:611263	J:169236
asphyxiating thoracic dystrophy 3		DOID:0110087	OMIM:613091	J:169236