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Phenotypes Associated with This Genotype
Genotype
MGI:3713117
Allelic
Composition
Hspg2tm1.1Rdgr/Hspg2tm1.1Rdgr
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hspg2tm1.1Rdgr mutation (0 available); any Hspg2 mutation (308 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• mice do not show any obvious phenotype; no obvious differences in shape or mineralization of the long bones is seen compared to wild-type
• a subtle increase in interterritorial matrix vs cell ratio in proliferative zone of growth plate is observed compared to wild-type; stacking of cells is somewhat disorganized
• hypertrophic chondrocytes appear larger and rounder on average than wild-type cells; stacking of cells is somewhat disorganized

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Schwartz-Jampel syndrome 1 DOID:0090005 OMIM:255800
J:121855


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
03/12/2024
MGI 6.23
The Jackson Laboratory