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Phenotypes Associated with This Genotype
Genotype
MGI:5698101
Allelic
Composition
PpibGt(RST139)Byg/PpibGt(RST139)Byg
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PpibGt(RST139)Byg mutation (0 available); any Ppib mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• surviving mutant mice weigh about 25% less than wild-type and heterozygous littermates from 3 to 24 weeks of age
• in surviving homozygous offspring of F5 matings, growth deficiency is apparent soon after weaning age

craniofacial
• mutant mice show abnormal shape of calvaria

limbs/digits/tail
• femora of 2-month male mutant mice display altered cortical and trabecular structure on CT analysis
• femoral cortical bone is thinner
• at 8 weeks of age, mutant femoral lengths are reduced 7% versus wild-type mice and heterozygotes (p<0.00004)
• a modestly enlarged marrow space is seen in mutant femora
• at 8 weeks of age, mutant tibial lengths are reduced 10% versus wild-type mice and heterozygotes (p<0.02)
• mutant mice do not have rhizomelia; the ratio of femoral to tibial length is comparable to wild-type (0.8860.020 vs 0.8610.035, p=0.07).
• mutant mice show shortened limbs

mortality/aging
• 30 and 50% lethality of homozygous pups from F4 and F5 matings is seen, likely due to respiratory insufficiency from abnormal rib cage structure

skeleton
• mutant mice show abnormal shape of calvaria
• femora of 2-month male mutant mice display altered cortical and trabecular structure on CT analysis
• femoral cortical bone is thinner
• at 8 weeks of age, mutant femoral lengths are reduced 7% versus wild-type mice and heterozygotes (p<0.00004)
• a modestly enlarged marrow space is seen in mutant femora
• at 8 weeks of age, mutant tibial lengths are reduced 10% versus wild-type mice and heterozygotes (p<0.02)
• mutant mice do not have rhizomelia; the ratio of femoral to tibial length is comparable to wild-type (0.8860.020 vs 0.8610.035, p=0.07).
• mutant mice show a deformed and flared rib cage which is more severe in pups that die after birth
• at 2 months of age, the rib cage of both heterozygous and homozygous mice has a narrow apex and drooping ribs at the base, providing limited space under the ribs for abdominal contents, which puff out the abdomen
• homozygous mice have kyphosis
• mutant mice have decreased aBMD of femora (p=0.001) and vertebrae (p=0.02)
• trabecular bone volume is half of wild-type
• decreased cortical area in femora
• reduction of femoral trabecular number
• reduction of femoral trabecular thickness
• surviving adult mutant mice are osteoporotic
• mutant mice show decreased mineralization of calvaria
• mutant femora have reduced stiffness in mechanical tests, requiring 48% less total energy to fracture than wild-type controls
• femoral stiffness was reduced 37% in mutant mice (p<0.01)
• femoral cortical bending moment of inertia, as measured by microCT, is only modestly reduced (11%, p=0.14) suggesting there may be significant changes in bone material properties at levels unaccounted for by changes in cortical geometr
• mutant femora have reduced ultimate load in mechanical tests
• mutant femora have reduced yield load in mechanical tests
• femoral post-yield displacement and plastic energy are reduced 77% and 89% respectively

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteogenesis imperfecta type 9 DOID:0110349 OMIM:259440
J:226318


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