Phenotypes Associated with This Genotype

Genotype
MGI:2677039

• Allelic Composition: Col2a1^tm1Prc/Col2a1^tm1Prc
• Genetic Background: involves: 129/Sv * C57BL/6

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

Abnormal intervertebral disc development in Col2a1^tm1Prc/Col2a1^tm1Prc mice

mortality/aging

perinatal lethality, complete penetrance ( J:30041 )

• all dead at birth

cardiovascular system

abnormal heart valve morphology ( J:30041 )

• short

increased renal plasma flow rate ( J:30041 )

• kidney hyperemia

kidney hemorrhage ( J:30041 )

craniofacial

small cranium ( J:30041 )

short facial bone ( J:30041 )

• truncated facial bones

absent palatal shelf ( J:30041 )

prominent forehead ( J:30041 )

• bulged foreheads

cleft palate ( J:30041 )

• all mice lacked a palate with no evidence of palatal shelves

short snout ( J:30041 )

embryo

persistence of notochord tissue ( J:51376 )

• not removed during embryonic development, persisted until birth

growth/size/body

short facial bone ( J:30041 )

• truncated facial bones

absent palatal shelf ( J:30041 )

prominent forehead ( J:30041 )

• bulged foreheads

cleft palate ( J:30041 )

• all mice lacked a palate with no evidence of palatal shelves

short snout ( J:30041 )

decreased body size ( J:30041 )

• 25% smaller than wild-type littermates

immune system

immune system phenotype ( J:30041 )

N • normal thymus histology

limbs/digits/tail

decreased autopod size ( J:30041 )

• small hands and feet, with short bones

abnormal limb bone morphology ( J:30041 )

short limbs ( J:30041 )

• compared to wild-type littermates

liver/biliary system

liver/biliary system phenotype ( J:30041 )

N • normal liver histology

renal/urinary system

increased renal plasma flow rate ( J:30041 )

• kidney hyperemia

kidney hemorrhage ( J:30041 )

respiratory system

abnormal pulmonary alveolus morphology ( J:30041 )

• closed

respiratory distress ( J:30041 )

skeleton

small cranium ( J:30041 )

short facial bone ( J:30041 )

• truncated facial bones

abnormal limb bone morphology ( J:30041 )

abnormal long bone epiphysis morphology ( J:30041 )

• absent

decreased length of long bones ( J:30041 )

• shortened long bones

short ribs ( J:30041 )

• shortened ribs

absent intervertebral disk ( J:51376 )

• failed to develop

abnormal vertebral arch morphology ( J:30041 )

• rudimentary and unclosed

abnormal bone marrow cavity morphology ( J:30041 )

• cavities evident in long bones, but no marrow present

decreased bone mineral density ( J:30041 )

• poor mineralization of the sternum, dorsal laminae, some, but not all, vertebrae in tail and the middle and distal phalanges

abnormal cartilage development ( J:51376 , J:30041 )

• evident at E14.5, failure of cartilage to enter growth plates and endochondral bone (J:51376)

abnormal chondrocyte morphology ( J:51376 , J:30041 )

• disorganized in vertebrae at E14.5 (J:51376)

• almost completely disorganized columnar array (J:30041)

vision/eye

vision/eye phenotype ( J:30041 )

N • normal eye histology

digestive/alimentary system

absent palatal shelf ( J:30041 )

cleft palate ( J:30041 )

• all mice lacked a palate with no evidence of palatal shelves

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondyloepiphyseal dysplasia congenita		DOID:14789	OMIM:183900	J:30041