Phenotypes Associated with This Genotype

Genotype
MGI:3693839

• Allelic Composition: Crtap^tm1Brle/Crtap^tm1Brle
• Genetic Background: involves: 129S7/SvEvBrd

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

growth/size/body

postnatal growth retardation ( J:116096 )

• homozygotes display postnatal growth delay

fetal growth retardation ( J:116096 )

• homozygotes display prenatal growth delay

skeleton

abnormal osteoblast physiology ( J:116096 )

• osteoid is markedly reduced in mutants; cells are producing osteoid at slower rate, as indicated by reduced MAR

disorganized long bone epiphyseal plate ( J:116096 )

• growth plate shows slightly disorganized columns of proliferating chondrocytes with focal areas of cell drop-out

decreased length of long bones ( J:116096 )

• shortening of long bone segments (particularly proximal limb segments - rhizomelia) is manifestation of pre- and postnatal growth delays

kyphoscoliosis ( J:116096 )

• mice develop progressive and severe kyphoscoliosis over the first 6 months of age

abnormal bone structure ( J:116096 )

• mutant bones have decreased bone volume/tissue volume ratio

abnormal trabecular bone morphology ( J:116096 )

• mice show decreased trabecular thickness and trabecular number, while trabecular separation is increased

decreased bone mass ( J:116096 )

• mice exhibit low bone mass compared to wild-type

osteoporosis ( J:116096 )

• skeleton shows evidence of marked osteoporosis

abnormal bone mineralization ( J:116096 )

• mineralization lag time (Mlt) is reduced; osteoid is mineralizing at faster rate than wild-type

decreased bone ossification ( J:116096 )

• bone formation rate (BFR) is reduced due to reduction in mineral apposition rate (MAR)

cellular

abnormal osteoblast physiology ( J:116096 )

• osteoid is markedly reduced in mutants; cells are producing osteoid at slower rate, as indicated by reduced MAR

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteogenesis imperfecta type 7		DOID:0110337	OMIM:610682	J:116096