Description

Strain Information

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

Development
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.

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related 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).

Osteogenesis Imperfecta, Type VII; OI7

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Crtap^tm1Brle/Crtap^tm1Brle

        involves: 129S7/SvEvBrd

• growth/size 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)
  • • osteoporosis
      • 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)
• kyphoscoliosis
  • mice develop progressive and severe kyphoscoliosis over the first 6 months of age   (MGI Ref ID J:116096)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Developmental Biology Research
Growth Defects
      Growth Defects (homozygous)
Perinatal Lethality
      Homozygous
Skin and Hair Texture Defects

Internal/Organ Research
Skeleton
      Bone

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Crtaptm1Brle
Allele Name		targeted mutation 1, Brendan Lee
Allele Type		Targeted (knock-out)
Common Name(s)		Crtap-;
Mutation Made By		Brendan Lee,   Baylor College of Medicine
Strain of Origin		129S7/SvEvBrd-Hprt
Gene Symbol and Name		Crtap, cartilage associated protein
Chromosome		9
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]

Genotyping

Genotyping Information

Genotyping Protocols

Crtap^tm1Brle, Separated PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

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]

Additional References

Crtap^tm1Brle related

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]

Health & husbandry

Health & Colony Maintenance Information

Colony Maintenance

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

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

 

This strain is currently Under Development - Now Accepting Orders.
Estimated Available for Distribution Date: 19-AUG-13

Please note: You may now place orders for this strain although it is not yet ready for distribution. Estimated available for distribution dates are provided to keep customers better informed on strains under development. Please note that our Colony Managers routinely monitor the target date and edit it based on breeding performance and other factors. The length of time it takes to make a new strain available for distribution depends on genotype, age, number of animals sent by the Donating Investigator, breeding performance, additional strain development (backcrossing, making homozygous), and anticipated demand for the strain.

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

See Terms of Use tab for General Terms and Conditions

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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Ordering Information
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Terms of Use

Terms of Use

General Terms and Conditions

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Contact information

General inquiries regarding Terms of Use

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JAX^® Mice, Products & Services Conditions of Use

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