Phenotypes Associated with This Genotype

Genotype
MGI:4462833

• Allelic Composition: Ppib^tm1.1Rjb/Ppib^tm1.1Rjb
• Genetic Background: Not Specified

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Decreased body size and kyphosis in Ppib^tm1.1Rjb/Ppib^tm1.1Rjb mice

mortality/aging

premature death ( J:161748 )

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

homeostasis/metabolism

decreased collagen level ( J:161748 )

• 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

decreased body size ( J:161748 )

decreased body weight ( J:161748 )

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

skeleton

kyphosis ( J:161748 )

• noted as early as 8 weeks after birth that progressed in severity with age

decreased bone mineral density ( J:161748 )

• dual-energy x-ray absorptiometry suggested that knockout mice had reduced bone density

decreased trabecular bone volume ( J:161748 )

• average femoral trabecular bone volume is significantly reduced in mutant mice

increased bone trabecular spacing ( J:161748 )

• the separation between trabeculae in femora is increased in mutant mice

osteoporosis ( J:161748 )

integument

abnormal cutaneous collagen fibril morphology ( J:161748 )

• 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

loose skin ( J:161748 )

decreased skin tensile strength ( J:161748 )

• 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