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Phenotypes Associated with This Genotype
Genotype
MGI:5550573
Allelic
Composition
Comptm2.1Mbri/Comptm2.1Mbri
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Comptm2.1Mbri mutation (0 available); any Comp mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• skull length and inner canthal distance are normal
• in male and female mice
• in male and female mice
• reduced length in female and male mice
• increased angle at the hip at 9 weeks with increased angle of deflection from the vertical of the tuberosity of the ischium in female and male mice
• changes in the extracellular matrix morphology in the cartilage
• with disorganized chondrocyte columns and areas of hypocellularity in the proliferative zone
• areas of hypocellularity in the proliferative zone
• irregular shape with enlarged rough endoplasmic reticulum in chondrocytes
• decreased proliferation and increased apoptosis with spatial dysregulation
• however, conventional unfolded protein response isn't induced

growth/size/body
• by 6 weeks in male mice
• by 9 weeks in female mice
• however, body weight at 3 weeks is normal
• mice are born normal but develop progressive short-limed dwarfism

limbs/digits/tail
• in male and female mice
• in male and female mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
pseudoachondroplasia DOID:0080047 OMIM:177170
J:206511


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
03/24/2020
MGI 6.15
The Jackson Laboratory