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Phenotypes Associated with This Genotype
Genotype
MGI:4830454
Allelic
Composition
P3h1tm1Dgen/P3h1tm1Dgen
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
P3h1tm1Dgen mutation (0 available); any P3h1 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Reduced body size and skeletal abnormalities in P3h1tm1Dgen/P3h1tm1Dgen mice

skeleton
• the femur exhibit reduced length, bone mineral density, cortical thickness, stiffness, and force to failure compared to in wild-type mice
• the number of small diameter fibrils is increased compared to in wild-type mice
• the distribution of fibril size is altered with more smaller diameter fibrils compared to in wild-type mice
• the chondrocytes within the hypertrophic zone are less organized compared to in wild-type mice
• progressively worsens with age
• in the skull and limbs
• the trabecular area is less mineralized with more spaces compared to in wild-type mice
• at E18 in the parietal bone

growth/size/body
• mice exhibit rhizomelia (decreased ration of femoral length to tibial length) unlike wild-type mice

adipose tissue

muscle
• the number of small diameter fibrils is increased compared to in wild-type mice
• the distribution of fibril size is altered with more smaller diameter fibrils compared to in wild-type mice

limbs/digits/tail
• the femur exhibit reduced length, bone mineral density, cortical thickness, stiffness, and force to failure compared to in wild-type mice

integument
• the dermis is less densely packed compared to in wild-type mice
• normal fibrils are interspersed with clumps of collagen fibrils and gaps and spaces between collagen fibrils unlike in wild-type mice
• thinner and less dense

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteogenesis imperfecta type 8 DOID:0110336 OMIM:610915
J:163884


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
02/16/2021
MGI 6.16
The Jackson Laboratory