|Homozygous Crtap (cartilage associated protein) knockout mice develop osteochondrodysplasia characterized by severe osteoporosis and decreased osteoid production. This strain may be useful as a model of osteogenesis imperfecta.|
Type Mutant Stock; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Mating System Wild-type x Heterozygote (Female x Male) 25-OCT-12 Mating System Heterozygote x Wild-type (Female x Male) 25-OCT-12 Species laboratory mouse Donating Investigator Brendan Lee, Baylor College of Medicine
A fragment containing the coding sequence of exon 1, intron 1, exon 2, intron 2 and part of exon 3 was replaced with a neomycin cassette using AB2.2 129S7/SvEvBrd-Hprt1+-derived embryonic stem (ES) cells. This strain was maintained on a mixed C57BL/6-129 genetic background by the donating laboratory.
|Wild-type from the colony|
|Considerations for Choosing Controls|
View Related Disease (OMIM) TermsRelated Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).View Mammalian Phenotype TermsMammalian Phenotype Terms provided by MGIassigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
- growth/size/body phenotype
- fetal growth retardation
- homozygotes display prenatal growth delay (MGI Ref ID J:116096)
- postnatal growth retardation
- homozygotes display postnatal growth delay (MGI Ref ID J:116096)
- skeleton phenotype
- abnormal bone ossification
- bone formation rate (BFR) is reduced due to reduction in mineral apposition rate (MAR) (MGI Ref ID J:116096)
- abnormal bone mineralization
- mineralization lag time (Mlt) is reduced; osteoid is mineralizing at faster rate than wild-type (MGI Ref ID J:116096)
- abnormal bone structure
- mutant bones have decreased bone volume/tissue volume ratio (MGI Ref ID J:116096)
- abnormal trabecular bone morphology
- mice show decreased trabecular thickness and trabecular number, while trabecular separation is increased (MGI Ref ID J:116096)
- decreased bone mass
- mice exhibit low bone mass compared to wild-type (MGI Ref ID J:116096)
- skeleton shows evidence of marked osteoporosis (MGI Ref ID J:116096)
- abnormal osteoblast physiology
- osteoid is markedly reduced in mutants; cells are producing osteoid at slower rate, as indicated by reduced MAR (MGI Ref ID J:116096)
- decreased length of long bones
- shortening of long bone segments (particularly proximal limb segments - rhizomelia) is manifestation of pre- and postnatal growth delays (MGI Ref ID J:116096)
- disorganized long bone epiphyseal plate
- growth plate shows slightly disorganized columns of proliferating chondrocytes with focal areas of cell drop-out (MGI Ref ID J:116096)
- mice develop progressive and severe kyphoscoliosis over the first 6 months of age (MGI Ref ID J:116096)View Research Applications
|Allele Name||targeted mutation 1, Brendan Lee|
|Allele Type||Targeted (knock-out)|
|Mutation Made By||Brendan Lee, Baylor College of Medicine|
|Strain of Origin||129S7/SvEvBrd-Hprt|
|Gene Symbol and Name||Crtap, cartilage associated protein|
|Gene Common Name(s)||5730529N23Rik; CASP; LEPREL3; OI7; RGD1565180; RIKEN cDNA 5730529N23 gene;|
|Molecular Note||A neomycin resistance cassette replaced part of exon 1 and all of exon 2. Absence of transcript was confirmed by Northern blot and RT-PCR analyses. [MGI Ref ID J:116096]|
Morello R; Bertin TK; Chen Y; Hicks J; Tonachini L; Monticone M; Castagnola P; Rauch F; Glorieux FH; Vranka J; Bachinger HP; Pace JM; Schwarze U; Byers PH; Weis M; Fernandes RJ; Eyre DR; Yao Z; Boyce BF; Lee B. 2006. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 127(2):291-304. [PubMed: 17055431] [MGI Ref ID J:116096]
Baldridge D; Lennington J; Weis M; Homan EP; Jiang MM; Munivez E; Keene DR; Hogue WR; Pyott S; Byers PH; Krakow D; Cohn DH; Eyre DR; Lee B; Morello R. 2010. Generalized connective tissue disease in Crtap-/- mouse. PLoS One 5(5):e10560. [PubMed: 20485499] [MGI Ref ID J:160834]
Massaad CA; Amin SK; Hu L; Mei Y; Klann E; Pautler RG. 2010. Mitochondrial superoxide contributes to blood flow and axonal transport deficits in the Tg2576 mouse model of Alzheimer's disease. PLoS One 5(5):e10561. [PubMed: 20479943] [MGI Ref ID J:160835]
Breeding & Husbandry Homozygous knockout mice show some perinatal lethality and surviving homozygous males are not generally good breeders. The donating laboratory maintains the line through heterozygote x heterozygote crosses. Mating System Wild-type x Heterozygote (Female x Male) 25-OCT-12 Heterozygote x Wild-type (Female x Male) 25-OCT-12
This strain is currently Under Development for Cryo.
|Wild-type from the colony|
|Considerations for Choosing Controls|
|Control Pricing Information for Genetically Engineered Mutant Strains.|
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