Phenotypes Associated with This Genotype

Genotype
MGI:4829609

• Allelic Composition: Trip11^m1Mawa/Trip11^m1Mawa
• Genetic Background: C57BL/6J-Trip11^m1Mawa

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

mortality/aging

neonatal lethality, complete penetrance ( J:163656 )

skeleton

domed cranium ( J:163656 )

abnormal long bone epiphysis morphology ( J:163656 )

• at E15.5, no proliferating chondrocytes are observed at the center of the epiphysis or in the presumptive columnar zone in the humeri unlike in wild-type mice

small thoracic cage ( J:163656 )

abnormal osteoblast morphology ( J:163656 )

• osteoblasts exhibit swelling of the endoplasmic reticulum unlike in wild-type cells

abnormal chondrocyte morphology ( J:163656 )

• at E13.5, hypertrophic chondrocytes are smaller than in wild-type mice

• at E13.5, proliferating chrondrocytes are larger than in wild-type mice

• at E15.5, chondrocytes fail to form an organized columnar growth zone compared with wild-type mice

• the chondrocyte hypertrophic differentiation is delayed compared to in wild-type mice and absent at E18.5

• chondrocytes exhibit swelling of the endoplasmic reticulum and abnormal golgi unlike in wild-type cells

abnormal bone mineralization ( J:163656 )

• intramembranous and endochondral bone mineralization is delayed compared to in wild-type mice

failure of bone ossification ( J:163656 )

• mice lack vertebral-body ossification unlike wild-type mice

abnormal chondrocyte physiology ( J:163656 )

• at E15.5, chondrocytes produce less extracellular matrix compared to wild-type cells

• at E15.5, no proliferating chondrocytes are observed at the center of the epiphysis or in the presumptive columnar zone in the humeri unlike in wild-type mice

• at E17.5, apoptotic chondrocytes are detected in the humeri unlike in wild-type mice

cellular

abnormal endoplasmic reticulum morphology ( J:163656 )

• mice exhibit swelling of the endoplasmic reticulum (ER) in the chondrocytes and osteoblasts unlike in wild-type cells

• however, the ER of other cells is normal

abnormal cell physiology ( J:163656 )

• post-translational protein processing and secretion in primary skin fibroblasts is impaired compared to in wild-type cells

respiratory system

abnormal pulmonary alveolus morphology ( J:163656 )

• alveolar formation in the lungs is decreased compared to in wild-type mice

growth/size/body

short snout ( J:163656 )

omphalocele ( J:163656 )

craniofacial

domed cranium ( J:163656 )

short snout ( J:163656 )

limbs/digits/tail

short limbs ( J:163656 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondrogenesis type IA		DOID:0080054	OMIM:200600	J:163656