Phenotypes Associated with This Genotype

Genotype
MGI:3694230

• Allelic Composition: Acan^cmd/Acan^cmd
• Genetic Background: STOCK T t^low Itpr3^tf

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

mortality/aging

neonatal lethality, complete penetrance ( J:5952 )

• homozygotes are born alive, but die shortly after birth due to inability to breathe

growth/size/body

cleft palate ( J:5952 , J:30795 )

protruding tongue ( J:5952 )

flattened snout ( J:5952 )

• snout is short and blunted

short snout ( J:5952 )

disproportionate dwarf ( J:30795 )

• noted at birth

distended abdomen ( J:5952 , J:30795 )

• abdomen is strikingly protruberant (J:5952)

• newborns display distended abdomens (J:30795)

enlarged liver ( J:5952 )

• liver is enlarged, likely due to congestion with blood

craniofacial

abnormal craniofacial bone morphology ( J:30795 )

• facial bones are reduced in antero-posterior length at E18

short basicranium ( J:30795 )

• cranial base is reduced in antero-posterior length at E18

cleft palate ( J:5952 , J:30795 )

protruding tongue ( J:5952 )

flattened snout ( J:5952 )

• snout is short and blunted

short snout ( J:5952 )

skeleton

abnormal craniofacial bone morphology ( J:30795 )

• facial bones are reduced in antero-posterior length at E18

short basicranium ( J:30795 )

• cranial base is reduced in antero-posterior length at E18

abnormal tracheal cartilage morphology ( J:5952 )

• chondrocytes are tightly packed, there is very little matrix and many pyknotic cells, which often contain vacuoles

decreased length of long bones ( J:5952 )

• long bones are reduced to >50% of normal length

short humerus ( J:5952 )

short femur ( J:5952 )

abnormal rib morphology ( J:30795 )

• ribs are short and blunted at E18

abnormal vertebrae morphology ( J:5952 , J:30795 )

• three calcification centers (one in vertebral body, one in each half of vertebral arch) are joined except in most posterior calcified vertebrae while these centers are well defined in the wild-type vertebrae (J:5952)

absent caudal vertebrae ( J:30795 )

• number of tail vertebrae is reduced at E18

short vertebral column ( J:5952 , J:30795 )

• spinal column is shortened by ~25% (mutants 15.4 mm vs wild-type 21.4 mm in length) (J:5952)

• axial skeleton is shortened at E18 (J:30795)

abnormal trabecular bone morphology ( J:30795 )

• in E16 mutants, spongy bone is present throughout the width of the bone shaft, whereas in wild-type, it is confined to periosteum

abnormal cartilage development ( J:30795 )

• cartilage shows reduced growth rate starting at ~E13

• cartilage in all parts of skeleton is abnormal by E14

abnormal chondrocyte morphology ( J:5952 , J:30795 )

• mutant cells have few short and blunt cytoplasmic processes (J:5952)

• in E16 limb bones, chondrocytes start to undergo degenerative changes (J:30795)

limbs/digits/tail

abnormal limb morphology ( J:30795 )

• mutants can be identified by E15 because of shortened limbs

• in E18 mutants, limb girdles and long bones are ~half of normal size

brachydactyly ( J:30795 )

short humerus ( J:5952 )

short femur ( J:5952 )

absent caudal vertebrae ( J:30795 )

• number of tail vertebrae is reduced at E18

liver/biliary system

enlarged liver ( J:5952 )

• liver is enlarged, likely due to congestion with blood

dark liver ( J:5952 )

• in newborns, and to lesser extent in embryos, livers are darker than normal

respiratory system

abnormal tracheal cartilage morphology ( J:5952 )

• chondrocytes are tightly packed, there is very little matrix and many pyknotic cells, which often contain vacuoles

respiratory distress ( J:5952 )

digestive/alimentary system

cleft palate ( J:5952 , J:30795 )

protruding tongue ( J:5952 )