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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Crtaptm1Brle
targeted mutation 1, Brendan Lee
MGI:3693334
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Crtaptm1Brle/Crtaptm1Brle involves: 129S7/SvEvBrd MGI:3693839


Genotype
MGI:3693839
hm1
Allelic
Composition
Crtaptm1Brle/Crtaptm1Brle
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crtaptm1Brle mutation (1 available); any Crtap mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• homozygotes display postnatal growth delay
• homozygotes display prenatal growth delay

skeleton
• growth plate shows slightly disorganized columns of proliferating chondrocytes with focal areas of cell drop-out
• shortening of long bone segments (particularly proximal limb segments - rhizomelia) is manifestation of pre- and postnatal growth delays
• mice develop progressive and severe kyphoscoliosis over the first 6 months of age
• mutant bones have decreased bone volume/tissue volume ratio
• mice show decreased trabecular thickness and trabecular number, while trabecular separation is increased
• mice exhibit low bone mass compared to wild-type
• skeleton shows evidence of marked osteoporosis
• bone formation rate (BFR) is reduced due to reduction in mineral apposition rate (MAR)
• mineralization lag time (Mlt) is reduced; osteoid is mineralizing at faster rate than wild-type
• osteoid is markedly reduced in mutants; cells are producing osteoid at slower rate, as indicated by reduced MAR

Mouse Models of Human Disease
OMIM ID Ref(s)
Osteogenesis Imperfecta, Type VII; OI7 610682 J:116096





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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory