Phenotypes Associated with This Genotype

Genotype
MGI:5550573

• Allelic Composition: Comp^tm2.1Mbri/Comp^tm2.1Mbri
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

skeleton

skeleton phenotype ( J:206511 )

N • skull length and inner canthal distance are normal

abnormal hip joint morphology ( J:206511 )

• hip dysplasia

short femur ( J:206511 )

• in male and female mice

short tibia ( J:206511 )

• in male and female mice

abnormal pelvic girdle bone morphology ( J:206511 )

• reduced length in female and male mice

• increased angle at the hip at 9 weeks with increased angle of deflection from the vertical of the tuberosity of the ischium in female and male mice

abnormal cartilage morphology ( J:206511 )

• changes in the extracellular matrix morphology in the cartilage

abnormal long bone epiphyseal plate morphology ( J:206511 )

• with disorganized chondrocyte columns and areas of hypocellularity in the proliferative zone

abnormal long bone epiphyseal plate proliferative zone ( J:206511 )

• areas of hypocellularity in the proliferative zone

abnormal chondrocyte morphology ( J:206511 )

• irregular shape with enlarged rough endoplasmic reticulum in chondrocytes

abnormal chondrocyte physiology ( J:206511 )

• decreased proliferation and increased apoptosis with spatial dysregulation

• however, conventional unfolded protein response isn't induced

growth/size/body

decreased body weight ( J:206511 )

• by 6 weeks in male mice

• by 9 weeks in female mice

• however, body weight at 3 weeks is normal

disproportionate dwarf ( J:206511 )

• mice are born normal but develop progressive short-limed dwarfism

limbs/digits/tail

abnormal hip joint morphology ( J:206511 )

• hip dysplasia

short femur ( J:206511 )

• in male and female mice

short tibia ( J:206511 )

• in male and female mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pseudoachondroplasia		DOID:0080047	OMIM:177170	J:206511