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Phenotypes Associated with This Genotype
Genotype
MGI:5694079
Allelic
Composition
Pax8tm1Pgr/Pax8tm1Pgr
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax8tm1Pgr mutation (1 available); any Pax8 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• TSH levels are elevated 1900-fold

limbs/digits/tail
• the ratio of femur length to cortical bone width is increased by 35%
• limbs are 19% and 8% shorter at P14 and P70, respectively
• transient treatment with T3 and T4 before weaning (P8-P13) normalizes the skeletal phenotype

skeleton
• relative and cumulative frequencies of micromineralization densities are reduced in proximal humerus
• femoral bone mineral density is reduced by 6%
• bone volume fraction is reduced by 17%
• long bones have reduced cortical thickness and mid-diaphysis cortical bone thickness is reduced by 23%
• the ratio of the diameter between endosteal cortical bone surfaces to the diameter between periosteal surfaces is increased
• the ratio of femur length to cortical bone width is increased by 35%
• long bones have abnormal trabecular architecture, with trabeculae being coarser, more plate-like and of increased connectivity
• wider growth plates due to widening of all zones
• mice exhibit reduced bone mineralization
• mice exhibit delayed formation of secondary ossification centers
• the proximal tibia epiphysis exhibits delayed and incomplete ossification and has disrupted growth plate architecture
• bone retains calcified cartilage indicating impaired trabecular remodeling

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital hypothyroidism DOID:0050328 OMIM:PS275200
J:130062


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
02/18/2020
MGI 6.14
The Jackson Laboratory