Phenotypes Associated with This Genotype

Genotype
MGI:7261449

• Allelic Composition: Tg(Col2a1*G574S)1Waho/0
• Genetic Background: involves: C57BL/6 * DBA/2

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:38204 )

• 25-50% of mutants are born dead

growth/size/body

cleft palate ( J:38204 )

• pups exhibit cleft palate

short snout ( J:38204 )

• the mandible, the premaxilla, and nasal cavity are not as prominent as in wild-type mice at E16.5, resulting in a shortened snout

decreased body size ( J:38204 )

• dwarf phenotype is seen from E14.5 to E18.5 normal size at E15.5

distended abdomen ( J:38204 )

• pups exhibit distended abdomens

skeleton

abnormal cranium morphology ( J:38204 )

• odd-shaped skull is seen at E15.5

• the posterior portion of the skull remains undeveloped

decreased length of long bones ( J:38204 )

• long bones are shorter at E16.5

abnormal thoracic cage morphology ( J:38204 )

• short rib cage

short vertebral column ( J:38204 )

• short vertebral column is first seen at E15.5

abnormal chondrocyte differentiation ( J:38204 )

• poorly differentiated chondrocytes

abnormal epiphyseal plate morphology ( J:38204 )

• density of collagen fibrils is reduced throughout the growth plate; this is seen in the matrix adjacent to the cells as well as between cells

abnormal long bone epiphyseal plate morphology ( J:38204 )

• architecture of the long bone growth plate is abnormal, with no discernible proliferative zone, with few stacks of characteristically flattened cells, and reduced overall length of the growth plate

abnormal long bone epiphyseal plate proliferative zone ( J:38204 )

• the proliferative zone is shorted and contains fewer cells in E18.5 humerus

• the proliferating chondrocytes appear larger and less extended and more homogeneously dispersed

abnormal long bone hypertrophic chondrocyte zone ( J:38204 )

• the hypertrophic zone contains smaller cells that do not contain similar vacuoles as in wild-type and the cells are well-separated by extracellular matrix instead of being tightly packed

• deposits of calcium are scattered irregularly throughout the hypertrophic area while they tend to be in longitudinal septa near the interface with bone in the wild-type

abnormal endochondral bone ossification ( J:38204 )

• by E15.5, mutants show a difference from wild-type in the pattern of ossification of the vertebral column, the rib cage, and the limbs while overall size appears normal

delayed endochondral bone ossification ( J:38204 )

• delay of ossification of the vertebral column, the rib cage, limbs, and paws

• an initial delay in ossification is followed by tendency to normalize; the discrepancy in the relative length of the vertebral column and limbs increases as fetal development proceeds but the proportional difference in the length of the ossified region of the vertebral column between transgenic and wild-type fetuses is lessened as development proceeds

craniofacial

abnormal cranium morphology ( J:38204 )

• odd-shaped skull is seen at E15.5

• the posterior portion of the skull remains undeveloped

cleft palate ( J:38204 )

• pups exhibit cleft palate

short snout ( J:38204 )

• the mandible, the premaxilla, and nasal cavity are not as prominent as in wild-type mice at E16.5, resulting in a shortened snout

limbs/digits/tail

short limbs ( J:38204 )

• limbs are first observed at E15.5 and are distinctly shorter at E16.5, E17.5 and E18.5

short tail ( J:38204 )

digestive/alimentary system

cleft palate ( J:38204 )

• pups exhibit cleft palate

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypochondrogenesis		DOID:0080044		J:38204