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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 (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• lower body weight than their littermate control (J:154052)
• lower body weight than their littermate control (J:154052)
• short-limbed dwarfism (J:154052)
• shorter endochondral bones than their wild type littermates at 11 week of age (J:154052)
• skull was unaffected (J:154052)
• no overt skeletal phenotype at birth (J:154052)
• short-limbed dwarfism (J:154052)
• shorter endochondral bones than their wild type littermates at 11 week of age (J:154052)
• skull was unaffected (J:154052)
• no overt skeletal phenotype at birth (J:154052)

limbs/digits/tail
• femurs are 21% shorter than wild type from 1 week to 10 weeks of age (J:154052)
• the differences maintained at 1 year of age (J:154052)
• no overt skeletal phenotype at birth (J:154052)
• femurs are 21% shorter than wild type from 1 week to 10 weeks of age (J:154052)
• the differences maintained at 1 year of age (J:154052)
• no overt skeletal phenotype at birth (J:154052)

skeleton
• fewer osteoclasts localize to the vascular invasion front of the growth plate (J:154052)
• fewer osteoclasts localize to the vascular invasion front of the growth plate (J:154052)
• femurs are 21% shorter than wild type from 1 week to 10 weeks of age (J:154052)
• the differences maintained at 1 year of age (J:154052)
• no overt skeletal phenotype at birth (J:154052)
• femurs are 21% shorter than wild type from 1 week to 10 weeks of age (J:154052)
• the differences maintained at 1 year of age (J:154052)
• no overt skeletal phenotype at birth (J:154052)
• expanded hypertrophic zones of the growth plates in tibia, femur and ribs (J:154052)
• expansion of the hypertrophic zone is apparent at birth and still apparent at 7 weeks of age (J:154052)
• nomal pattern of trabecular bone deposition beneath the expanded growth plates (J:154052)
• normal chondrocyte proliferation rates (J:154052)
• expanded hypertrophic zones of the growth plates in tibia, femur and ribs (J:154052)
• expansion of the hypertrophic zone is apparent at birth and still apparent at 7 weeks of age (J:154052)
• nomal pattern of trabecular bone deposition beneath the expanded growth plates (J:154052)
• normal chondrocyte proliferation rates (J:154052)
• distorted pelvis shape (J:154052)
• pelvis length is significantly shorter compared to wild type from 1 week of age (J:154052)
• distorted pelvis shape (J:154052)
• pelvis length is significantly shorter compared to wild type from 1 week of age (J:154052)

cellular
• the secretion of mutant protein is reduced and significantly delayed in the hypertrophic zone (J:154052)
• intracellular retention of the mutant protein apparent in the upper hypertrophic zone (J:154052)
• the secretion of mutant protein is reduced and significantly delayed in the hypertrophic zone (J:154052)
• intracellular retention of the mutant protein apparent in the upper hypertrophic zone (J:154052)
• increased endoplasmic reticulum stress in hypertrophic chondrocytes (J:154052)
• induced unfolded protein response (J:154052)
• increased endoplasmic reticulum stress in hypertrophic chondrocytes (J:154052)
• induced unfolded protein response (J:154052)

hematopoietic system
• fewer osteoclasts localize to the vascular invasion front of the growth plate (J:154052)
• fewer osteoclasts localize to the vascular invasion front of the growth plate (J:154052)

immune system
• fewer osteoclasts localize to the vascular invasion front of the growth plate (J:154052)
• fewer osteoclasts localize to the vascular invasion front of the growth plate (J:154052)

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
01/26/2016
MGI 6.02
The Jackson Laboratory