Phenotypes Associated with This Genotype

Genotype
MGI:4830454

• Allelic Composition: P3h1^tm1Dgen/P3h1^tm1Dgen
• Genetic Background: involves: C57BL/6

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

Reduced body size and skeletal abnormalities in P3h1^tm1Dgen/P3h1^tm1Dgen mice

skeleton

abnormal femur morphology ( J:163884 )

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

abnormal tendon morphology ( J:163884 )

• 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

abnormal long bone hypertrophic chondrocyte zone ( J:163884 )

• the chondrocytes within the hypertrophic zone are less organized compared to in wild-type mice

decreased length of long bones ( J:163884 )

short femur ( J:163884 )

kyphoscoliosis ( J:163884 )

• progressively worsens with age

decreased bone mineral density ( J:163884 )

• in the skull and limbs

abnormal trabecular bone morphology ( J:163884 )

• the trabecular area is less mineralized with more spaces compared to in wild-type mice

delayed bone ossification ( J:163884 )

• at E18 in the parietal bone

growth/size/body

decreased body size ( J:163884 )

disproportionate dwarf ( J:163884 )

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

postnatal growth retardation ( J:163884 )

adipose tissue

decreased total body fat amount ( J:163884 )

muscle

abnormal tendon morphology ( J:163884 )

• 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

abnormal femur morphology ( J:163884 )

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

short femur ( J:163884 )

integument

abnormal dermal layer morphology ( J:163884 )

• the dermis is less densely packed compared to in wild-type mice

abnormal dermis reticular layer collagen network ( J:163884 )

• normal fibrils are interspersed with clumps of collagen fibrils and gaps and spaces between collagen fibrils unlike in wild-type mice

thin skin ( J:163884 )

• 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