Phenotypes Associated with This Genotype

Genotype
MGI:2677040

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

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:30041 )

• those with cleft palate, 5 of 120, were dead at birth or shortly thereafter

craniofacial

prominent forehead ( J:30041 )

• slightly bulged foreheads

cleft palate ( J:30041 )

• incomplete penetrance, 5 of 120

short snout ( J:30041 )

• compared to wild-type littermates

growth/size/body

prominent forehead ( J:30041 )

• slightly bulged foreheads

cleft palate ( J:30041 )

• incomplete penetrance, 5 of 120

short snout ( J:30041 )

• compared to wild-type littermates

decreased body size ( J:30041 )

• smaller than wild-type littermates at 19 days after birth

decreased fetal size ( J:30041 )

• smaller than wildtype at 15 days pc

limbs/digits/tail

short limbs ( J:30041 )

• compared to wild-type littermates

skeleton

abnormal chondrocyte morphology ( J:30041 )

• disorganized columnar array

abnormal skeleton development ( J:30041 )

• minor changes in gross development of skeleton and soft tissues, however normal extent of mineralization

abnormal cartilage development ( J:30041 )

vision/eye

vision/eye phenotype ( J:144313 )

N • despite eye abnormalities, no increase in retinal detachment is observed

abnormal anterior eye segment morphology ( J:144313 )

• the anterior eye segment exhibits decreased folding in the ciliary process with changes in the stromal extracellular matrix and vacuolization compared to in wild-type eyes

abnormal ciliary process morphology ( J:144313 )

• typical folding of ciliary processes is reduced

abnormal lens morphology ( J:144313 )

• the subcapsular extracellular matrix is abnormal

abnormal posterior eye segment morphology ( J:144313 )

• hyaluronic acid staining in the choroid is decreased in intensity compared to in wild-type mice

digestive/alimentary system

cleft palate ( J:30041 )

• incomplete penetrance, 5 of 120

homeostasis/metabolism

decreased hyaluronic acid level ( J:144313 )

• hyaluronic acid staining in the choroid is decreased in intensity compared to in wild-type mice