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Phenotypes Associated with This Genotype
Genotype
MGI:4397575
Allelic
Composition
Col10a1tm1.1Rpbh/Col10a1tm1.1Rpbh
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col10a1tm1.1Rpbh mutation (0 available); any Col10a1 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• lower body weight than their littermate control
• short-limbed dwarfism
• shorter endochondral bones than their wild type littermates at 11 week of age
• skull was unaffected
• no overt skeletal phenotype at birth

limbs/digits/tail
• femurs are 21% shorter than wild type from 1 week to 10 weeks of age
• the differences maintained at 1 year of age
• no overt skeletal phenotype at birth

skeleton
• fewer osteoclasts localize to the vascular invasion front of the growth plate
• femurs are 21% shorter than wild type from 1 week to 10 weeks of age
• the differences maintained at 1 year of age
• no overt skeletal phenotype at birth
• expanded hypertrophic zones of the growth plates in tibia, femur and ribs
• expansion of the hypertrophic zone is apparent at birth and still apparent at 7 weeks of age
• nomal pattern of trabecular bone deposition beneath the expanded growth plates
• normal chondrocyte proliferation rates
• distorted pelvis shape
• pelvis length is significantly shorter compared to wild type from 1 week of age

cellular
• the secretion of mutant protein is reduced and significantly delayed in the hypertrophic zone
• intracellular retention of the mutant protein apparent in the upper hypertrophic zone
• increased endoplasmic reticulum stress in hypertrophic chondrocytes
• induced unfolded protein response

hematopoietic system
• fewer osteoclasts localize to the vascular invasion front of the growth plate

immune system
• fewer osteoclasts localize to the vascular invasion front of the growth plate

Mouse Models of Human Disease
OMIM ID Ref(s)
Metaphyseal Chondrodysplasia, Schmid Type; MCDS 156500 J:154052


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
11/22/2016
MGI 6.06
The Jackson Laboratory