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Phenotypes Associated with This Genotype
Genotype
MGI:5643754
Allelic
Composition
Gt(ROSA)26Sortm5(ACTB-tTA)Luo/Gt(ROSA)26Sor+
Tg(Col2a1-cre)1Bhr/0
Tg(tetO/CMV-Col2a1*R992C,-GFP)#Afe/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm5(ACTB-tTA)Luo mutation (4 available); any Gt(ROSA)26Sor mutation (442 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
Tg(tetO/CMV-Col2a1*R992C,-GFP)#Afe mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• shortened head
• mice are smaller at 6 months of age, with average mass reduced by 30%
• however, mice maintained in the presence of doxycycline exhibit normal skeletal phenotypes
• shortening of the trunk in 6 and 10 week old mice

skeleton
• reduction in length/width ratio of the skull
• the extracellular content of collagen II is reduced in growth plates
• the collagenous matrix in growth plates lacks structural continuity and the longitudinal septa are irregularly thickened
• polarity of proliferating chondrocytes and periarticular chondrocytes in the growth plates is not clearly defined
• the parallel organization of primary cilia in chondrocytes of the growth plates of newborns is not clearly established and the uniform pattern of primary cilia alignment in growth plates of 10 week old mice is not apparent
• 10 week old mice show irregular distribution of collagen X-rich matrix in the hypertrophic zones
• tibial growth plates show disorganized columnar chondrocytes whose continuity of the typical palisade-like arrangement is often interrupted by extended areas in which chondrocytes are absent
• vertebrae are shorter and wider
• diameter of collagen fibrils in the growth plates is small
• polarity of proliferating chondrocytes and periarticular chondrocytes in the growth plates is not clearly defined
• percent of chondrocytes undergoing division is lower in newborn and 10-week old mutants than in controls, indicating decreased proliferation
• an increase in BiP content indicates that chondrocytes are undergoing endoplasmic reticulum stress

cellular
• aberrant organization of primary cilia in chondrocytes of growth plates
• length of cilia present in growth plate chondrocytes is reduced

craniofacial
• reduction in length/width ratio of the skull

limbs/digits/tail

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
spondyloepiphyseal dysplasia congenita DOID:14789 OMIM:183900
J:216945


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/12/2019
MGI 6.13
The Jackson Laboratory