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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ppibtm1.1Rjb
targeted mutation 1.1, Richard J Bram
MGI:4462803
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ppibtm1.1Rjb/Ppibtm1.1Rjb Not Specified MGI:4462833


Genotype
MGI:4462833
hm1
Allelic
Composition
Ppibtm1.1Rjb/Ppibtm1.1Rjb
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppibtm1.1Rjb mutation (0 available); any Ppib mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Decreased body size and kyphosis in Ppibtm1.1Rjb/Ppibtm1.1Rjb mice

mortality/aging
• homozygous mutant mice die between 40 and 50 weeks of age

homeostasis/metabolism
• severe loss of triple-hydroxylated collagen representing the 986-hydroxylated peptide in mutant fibroblasts
• lower concentrations of collagen are present in mutant skin

growth/size/body
• reduced body size and weight, in comparison to littermate controls

skeleton
• noted as early as 8 weeks after birth that progressed in severity with age
• dual-energy x-ray absorptiometry suggested that knockout mice had reduced bone density
• average femoral trabecular bone volume is significantly reduced in mutant mice
• the separation between trabeculae in femora is increased in mutant mice

integument
• aberrant type I and type II collagen present in cultured skin fibroblasts and in bone and cartilage extracts
• collagen fibrils in mutant mice are on average 1.45 times wider than similar samples from littermate control mice (114.6 +/2 22.4 nm vs. 78.6 +/2 12.4 nm diameter)
• lower concentrations of collagen are present in mutant skin
• decreased tensile strength of skin samples is seen in mutant mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteogenesis imperfecta type 9 DOID:0110349 OMIM:259440
J:161748





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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
04/06/2021
MGI 6.16
The Jackson Laboratory