Mouse Genome Informatics
hm
    Trip11m1Mawa/Trip11m1Mawa
C57BL/6J-Trip11m1Mawa
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging

skeleton
• 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
• osteoblasts exhibit swelling of the endoplasmic reticulum unlike in wild-type cells
• 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
• intramembranous and endochondral bone mineralization is delayed compared to in wild-type mice
• mice lack vertebral-body ossification unlike wild-type mice
• 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
• 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
• post-translational protein processing and secretion in primary skin fibroblasts is impaired compared to in wild-type cells

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

growth/size/body

craniofacial

limbs/digits/tail

Mouse Models of Human Disease
OMIM IDRef(s)
Achondrogenesis, Type IA; ACG1A 200600 J:163656