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Phenotypes Associated with This Genotype
Genotype
MGI:6154156
Allelic
Composition
Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo/?
Tg(Col2a1-cre)1Bhr/?
Trip11tm1.1Psmi/Trip11tm1.2Psmi
Genetic
Background
involves: 129/Sv * C57BL/6 * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo mutation (6 available); any Gt(ROSA)26Sor mutation (513 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
Trip11tm1.1Psmi mutation (1 available); any Trip11 mutation (6 available)
Trip11tm1.2Psmi mutation (0 available); any Trip11 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial

cellular
• loss of Golgi apparatus stacking found in humeral chondrocytes

respiratory system
• histology of newborns shows decreased lung alveolar formation relative to controls, which the authors say appears to be secondary to the small ribcage

skeleton
• newborn pups have shorter bones in the extremities
• assessment of chondrocytes in humeri finds swollen chondrocytes in some areas at E15.5 and widespread just after birth, and electron microscopy shows an increase in the size of the endoplasmic reticulum cisternae and disruption of the Golgi stack structure
• severe
• newborn pups have decreased mineralization of the skull and vertebral column relative to controls
• E15.5 humeri show delayed formation of the primary ossification center

limbs/digits/tail

mortality/aging
• although generated at the expected Mendelian frequency, these mice all die shortly after birth with severe chondrodysplasia

growth/size/body

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
achondrogenesis type IA DOID:0080054 OMIM:200600
J:253969


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/03/2020
MGI 6.15
The Jackson Laboratory