Phenotypes Associated with This Genotype

Genotype
MGI:4941022

• Allelic Composition: Tg(Col2a1*R789C)#Waho/0
• Genetic Background: involves: C57BL/6 * DBA/2

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

mortality/aging

neonatal lethality, complete penetrance ( J:112540 )

• die soon after birth from respiratory distress

skeleton

abnormal limb bone morphology ( J:112540 )

• shortened limb bones

short ribs ( J:112540 )

short vertebral column ( J:112540 )

abnormal cartilage morphology ( J:112540 )

• reduction of collagen fibrils in cartilage matrix

abnormal perichondrium morphology ( J:112540 )

• perichondrium is thicker

abnormal epiphyseal plate morphology ( J:112540 )

• cellular organization of the cartilage growth plate is disturbed, with fewer stacks of flattened chondrocytes in the proliferative zone

abnormal long bone epiphyseal plate proliferative zone ( J:112540 )

• mutants exhibit fewer stacks of flattened chondrocytes in the proliferative zone

delayed bone ossification ( J:112540 )

• mineralization of primary and secondary ossification centers is delayed

growth/size/body

cleft palate ( J:112540 )

protruding tongue ( J:112540 )

short snout ( J:112540 )

abnormal chest morphology ( J:112540 )

• small thorax

decreased body length ( J:112540 )

• short trunk

disproportionate dwarf ( J:112540 )

• mutants are severely dwarfed

distended abdomen ( J:112540 )

digestive/alimentary system

cleft palate ( J:112540 )

protruding tongue ( J:112540 )

limbs/digits/tail

abnormal limb bone morphology ( J:112540 )

• shortened limb bones

short limbs ( J:112540 )

craniofacial

cleft palate ( J:112540 )

protruding tongue ( J:112540 )

short snout ( J:112540 )

reproductive system

decreased litter size ( J:112540 )

• small litter size, from 2-6 pups

respiratory system

respiratory distress ( J:112540 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondyloepiphyseal dysplasia congenita		DOID:14789	OMIM:183900	J:112540