Description

Strain Information

Former Names C57BL/6J-Col1a1Mov13/J    (Changed: 15-DEC-04 ) Type Mutant Strain; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse   Donating Investigator Rudolf Jaenisch,   Massachusetts Institute of Technology

Appearance
black
Related Genotype: a/a

Description
The integration of the M-MuLV genome near the 5' end of the Col1a1 gene blocks transcription of the gene from this locus. Mice homozygous for this mutation suffer from arrested development at day 12 and die at about embryonic day 13-14. Heterozygotes in our colony rarely survived to 8 months of age. Many died at less than 3 months of age.

Development
A piece of DNA encoding the entire M-MuLV genome and flanking sequences was injected into fertilized C57BL/6 eggs. Founder animals were obtained from the offspring.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Col1a1

006911	B6;129-Gt(ROSA)26Sortm1(rtTA*M2)Jae Col1a1tm2(tetO-Pou5f1)Jae/J
002495	B6;129S4-Col1a1tm1Jae/J

View Strains carrying other alleles of Col1a1     (2 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Osteogenesis Imperfecta, Type I - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Col1a1^Mov13/Col1a1⁺

        C57BL/6-Col1a1^Mov13

• pigmentation phenotype
• abnormal coat color (MGI Ref ID J:6514)
  • between 6-8 weeks of age, many single, interspersed hairs turn white, indicating premature hair color change
• skin/coat/nails phenotype
• abnormal coat color (MGI Ref ID J:6514)
  • between 6-8 weeks of age, many single, interspersed hairs turn white, indicating premature hair color change

Col1a1^Mov13/Col1a1⁺

        involves: C57BL/6

• hearing/vestibular/ear phenotype
• impaired hearing (MGI Ref ID J:107045)
  • profound and progressive hearing loss with age
• increased susceptibility to age-related hearing loss (MGI Ref ID J:107045)
  • profound and progressive hearing loss with age
• skeleton phenotype
• abnormal cortical bone morphology (MGI Ref ID J:107045)
  • disorganized cortical bone, with bone cells not organized in a normal osteonal pattern and diorganization of collagen within the cortex
  • modulus of elasticity of cortical bone is lower
• fragile skeleton (MGI Ref ID J:107045)
  • exhibit a significant difference in the load deformation response of bones at failure, indicating brittle and fragile bones, however stiffness is normal
  • modulus of elasticity of cortical bone is lower
• skin/coat/nails phenotype
• abnormal dermal layer morphology (MGI Ref ID J:107045)
  • dermis contains unusually thin collagen fibers and collagen content in the dermis is reduced by about 50%

Col1a1^Mov13/Col1a1^Mov13

        involves: C57BL/6

• lethality-prenatal/perinatal
• embryonic lethality during organogenesis (MGI Ref ID J:6979)
  • most homozygous embryos are degenerated and bloodless at E13 - E14 with none seen at E15
• embryogenesis phenotype
• embryonic growth arrest (MGI Ref ID J:6979)
  • embryos stop developing at E11.5 - E12

Col1a1^Mov13/Col1a1^Mov13

        C57BL/6-Col1a1^Mov13

• skeleton phenotype
• abnormal osteogenesis (MGI Ref ID J:16630)
  • bone formation is initiated in two embryos that survive to E16, however bone development is retarded and does not progress to later stages of endochondrial ossification
  • bone development and extent of ossification is markedly reduced when prospective bone-forming regions (parts of the lower jaw or central portion of the limbs of E12.5-13.5 embryos) are transplanted under the kidney capsule of adult wild-type hosts or onto chorioallantoic membrane of 8 day chick embryos

View Research Applications

Research Applications

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

Col1a1^Mov13 related

Cardiovascular Research
Heart Abnormalities (cardiomyopathy)

Dermatology Research
Skin and Hair Texture Defects

Developmental Biology Research
Defects in Extracellular Matrix Molecules
Skeletal Defects

Reproductive Biology Research
Fertility Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Col1a1Mov13
Allele Name		Moloney leukemia virus 13
Allele Type		Transgenic (random, gene disruption)
Mutation Made By		Rudolf Jaenisch,   Massachusetts Institute of Technology
Strain of Origin		C57BL/6
Gene Symbol and Name		Col1a1, collagen, type I, alpha 1
Chromosome		11
Gene Common Name(s)		COLIA1; Col1a-1; Cola-1; Cola1; Moloney leukemia virus 13; Mov-13; OI4;
General Note		A yeast artificial chromosome (YAC) 150 kb long that spans the Col1a1 gene has been introduced into fibroblasts carrying the Col1a1Mov13 mutation. The YAC complements the mutant gene, conferring normal collagen RNA expression (J:722). It can also be introduced transgenically into the germ line (J:4495).
Molecular Note		Experimental integration of a proviral genome occurred in the first intron 19 base pairs downstream of the intron/exon boundary, and leads to complete transcriptional block in most cell types, except for odontoblasts and some osteoblasts. [MGI Ref ID J:7142] [MGI Ref ID J:7398]

Genotyping

Genotyping Information

Genotyping Protocols

Col1a1^Mov13, STD PCR, vers. 1

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Schnieke A; Harbers K; Jaenisch R. 1983. Embryonic lethal mutation in mice induced by retrovirus insertion into the alpha 1(I) collagen gene. Nature 304(5924):315-20. [PubMed: 6308457]  [MGI Ref ID J:7142]

Additional References

Iruela-Arispe ML; Vernon RB; Wu H; Jaenisch R; Sage EH. 1996. Type I collagen-deficient Mov-13 mice do not retain SPARC in the extracellular matrix: implications for fibroblast function. Dev Dyn 207(2):171-83. [PubMed: 8906420]  [MGI Ref ID J:36211]

Jaenisch R; Jahner D; Nobis P; Simon I; Lohler J; Harbers K; Grotkopp D. 1981. Chromosomal position and activation of retroviral genomes inserted into the germ line of mice. Cell 24(2):519-29. [PubMed: 7237558]  [MGI Ref ID J:6514]

Col1a1^Mov13 related

Bonadio J; Jepsen KJ; Mansoura MK; Jaenisch R; Kuhn JL; Goldstein SA. 1993. A murine skeletal adaptation that significantly increases cortical bone mechanical properties. Implications for human skeletal fragility. J Clin Invest 92(4):1697-705. [PubMed: 8408623]  [MGI Ref ID J:104207]

Bonadio J; Saunders TL; Tsai E; Goldstein SA; Morris-Wiman J; Brinkley L; Dolan DF; Altschuler RA; Hawkins JE Jr; Bateman JF; et al.. 1990. Transgenic mouse model of the mild dominant form of osteogenesis imperfecta. Proc Natl Acad Sci U S A 87(18):7145-9. [PubMed: 2402497]  [MGI Ref ID J:107045]

Harbers K; Kuehn M; Delius H; Jaenisch R. 1984. Insertion of retrovirus into the first intron of alpha 1(I) collagen gene to embryonic lethal mutation in mice. Proc Natl Acad Sci U S A 81(5):1504-8. [PubMed: 6324198]  [MGI Ref ID J:7398]

Hartung S; Jaenisch R; Breindl M. 1986. Retrovirus insertion inactivates mouse alpha 1(I) collagen gene by blocking initiation of transcription. Nature 320(6060):365-7. [PubMed: 3960120]  [MGI Ref ID J:8244]

Jaenisch R; Harbers K; Schnieke A; Lohler J; Chumakov I; Jahner D; Grotkopp D; Hoffmann E. 1983. Germline integration of moloney murine leukemia virus at the Mov13 locus leads to recessive lethal mutation and early embryonic death. Cell 32(1):209-16. [PubMed: 6825169]  [MGI Ref ID J:6979]

Jaenisch R; Jahner D; Nobis P; Simon I; Lohler J; Harbers K; Grotkopp D. 1981. Chromosomal position and activation of retroviral genomes inserted into the germ line of mice. Cell 24(2):519-29. [PubMed: 7237558]  [MGI Ref ID J:6514]

Kratochwil K; Ghaffari-Tabrizi N; Holzinger I; Harbers K. 1993. Restricted expression of Mov13 mutant alpha 1(I) collagen gene in osteoblasts and its consequences for bone development. Dev Dyn 198(4):273-83. [PubMed: 8130375]  [MGI Ref ID J:16630]

Moser T; Harbers K; Kratochwil K. 1996. Tissue- and stage-specific activation of an endogenous provirus after transcription through its integration site in the opposite orientation. Mol Cell Biol 16(1):384-9. [PubMed: 8524319]  [MGI Ref ID J:30304]

Schwarz M; Harbers K; Kratochwil K. 1990. Transcription of a mutant collagen I gene is a cell type and stage-specific marker for odontoblast and osteoblast differentiation. Development 108(4):717-26. [PubMed: 2387241]  [MGI Ref ID J:32938]

Strauss WM; Dausman J; Beard C; Johnson C; Lawrence JB; Jaenisch R. 1993. Germ line transmission of a yeast artificial chromosome spanning the murine alpha 1(I) collagen locus. Science 259(5103):1904-7. [PubMed: 8096090]  [MGI Ref ID J:4495]

Strauss WM; Jaenisch R. 1992. Molecular complementation of a collagen mutation in mammalian cells using yeast artificial chromosomes. EMBO J 11(2):417-22. [PubMed: 1537326]  [MGI Ref ID J:722]

Health & husbandry

Health & Colony Maintenance Information

Colony Maintenance

Breeding & Husbandry	Expected coat color from breeding:Black.
Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Induced Mutant Resource Colony collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

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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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Terms of Use

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General Terms and Conditions

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Contact information

General inquiries

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phone:	207-288-6470
fax:	207-288-6655

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