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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Type Coisogenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse H2 Haplotype k Generation ?+N1p (29-MAY-05) Appearance
light gray
Related Genotype: A/A Atp7aMo-pew/Y male or A/A Atp7aMo-pew/Atp7aMo-pew female
agouti
Related Genotype: A/A +/Y male, A/A Atp7aMo-pew/+ femaleImportant Note
This strain is homozygous for the retinal degeneration allele Pde6brd1.Description
The Atp7 genes encode Cu2+ ATPases. Atp7a is the mouse ortholog of the human ATP7A gene, which is mutated in children with Menke's syndrome. The range of defects in both Menke's syndrome and in mice having mutations of Atp7a--the mottled series of mutants--are due to deficiencies in a number of copper-requiring enzymes, in turn attributed to an intracellular copper transport defect. Thus, it is likely that the Atp7a gene product functions as a copper transport protein. (For brief review and references, see Levinson et al., 1994.)Atp7aMo-pew, the mottled-pewter mutation, has the mildest effect of the known mutations at this locus. The sole phenotype noted in hemizygous males and homozygous females is their pale, silvery gray coat color. The coats of affected mice of both sexes are initially agouti; males become pewter by about 4 weeks and females at 5-6 weeks of age. Heterozygous females have normal, agouti coats throughout life. (Fox and Eicher 1978; Reynolds 2000). Both sexes are fertile (Fox and Eicher 1978).
At the molecular level, the Atp7aMo-pew mutation consists of a single point mutation at nucleotide 3074, in exon 15. The G-->A transition causes the substitution of a threonine for an alanine. The affected amino acid occurs in a seven amino acid sequence that is highly conserved among the twenty-one known or presumed copper-transporting ATPases. This sequence comprises the transduction domain in the sixth transmembrane segment of the protein and is believed to be responsible for its copper binding and transport functions (Levinson et al., 1997.)
Development
Atp7aMo-pew occurred spontaneously in 1976 on the CBA/J inbred strain at The Jackson Laboratory.
Control Information
| Control | ||
|---|---|---|
| Heterozygote female from the colony | ||
| Wild-type male from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Pde6brd1 allele
View Strains carrying Pde6brd1 (74 strains)
000535 B6.Cg-Atp7aMo-blo/J 001381 B6.Cg-Atp7aMo-pew2J/J 000053 B6.Cg-Atp7aMo-to/J 002062 B6C3Fe a/a-Atp7aMo-8J/J 002044 B6Ei.Cg-Atp7aMo-blo/J 002566 C57BL/6-Atp7aMo-br/J 000623 TR/DiEiJ
004297 B6.CXB1-Pde6brd10/J 005252 B6EiC3Sn.BLiA-Ts(1716)65Dn/DnJ 003647 B6EiC3Sn.BLiAF1 002802 C3.BLiA Pde6b+-Krd/J 001979 C3A.BLiA-Pde6b+.O20-Prph2Rd2/J 001912 C3A.BLiA-Pde6b+/J 003648 C3Sn.BLiA-Pde6b+/Dn 004766 C57BL/6J-Pde6brd1-2J/J 004828 FVB.129P2-Pde6b+ Tyrc-ch/AntJ 004808 STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
Phenotype
Phenotype Information
assigned by genotype
Atp7aMo-pew/Atp7a+
CBA/J-Atp7aMo-pew
- pigmentation phenotype
- abnormal coat/hair pigmentation (MGI Ref ID J:23989)
- mottled coat (MGI Ref ID J:23989)
- mice have a mosaic agouti gray and agouti black coat
- skin/coat/nails phenotype
- abnormal coat/hair pigmentation (MGI Ref ID J:23989)
- mottled coat (MGI Ref ID J:23989)
- mice have a mosaic agouti gray and agouti black coat
Atp7aMo-pew/Y
CBA/J-Atp7aMo-pewThis mouse can be used to support research in many areas including:Atp7aMo-pew related
Pde6brd1 relatedDermatology Research
Color and White Spotting Defects
Developmental Biology Research
Defects in Extracellular Matrix Molecules
Metabolism Research
Mouse/Human Gene Homologs
Menkes syndrome
Neurobiology Research
Metabolic Defects
Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Atp7aMo-pew | ||
|---|---|---|---|
| Allele Name | pewter | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Pew; | ||
| Strain of Origin | CBA/J | ||
| Gene Symbol and Name | Atp7a, ATPase, Cu++ transporting, alpha polypeptide | ||
| Chromosome | X | ||
| Gene Common Name(s) | Blo; FLJ17790; MK; MNK; Menkes protein; Mo; blotchy; br; mottled; | ||
| Molecular Note | This allele comprises a G-to-A transition at position 3074 in exon 15 creating a misesense mutation that alters the corresponding amino acid from an alanine to a threonine in a conserved region of the transduction domain of the encoded protein. [MGI Ref ID J:39098] | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Pdebrd1; rd; rd-1; rd1; rodless retina; | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Levinson B; Vulpe C; Elder B; Martin C; Verley F; Packman S; Gitschier J. 1994. The mottled gene is the mouse homologue of the Menkes disease gene [see comments] Nat Genet 6(4):369-73. [PubMed: 8054976] [MGI Ref ID J:17492]
Atp7aMo-pew relatedFox S; Eicher EM. 1978. Pewter (Pew) Mouse News Lett 58:47. [MGI Ref ID J:23989]
Levinson B; Packman S; Gitschier J. 1997. Mutation analysis of mottled pewter Mouse Genome 95(1):163-5. [MGI Ref ID J:39098]
Levinson B; Vulpe C; Elder B; Martin C; Verley F; Packman S; Gitschier J. 1994. The mottled gene is the mouse homologue of the Menkes disease gene [see comments] Nat Genet 6(4):369-73. [PubMed: 8054976] [MGI Ref ID J:17492]
Moran JL; Bolton AD; Tran PV; Brown A; Dwyer ND; Manning DK; Bjork BC; Li C; Montgomery K; Siepka SM; Vitaterna MH; Takahashi JS; Wiltshire T; Kwiatkowski DJ; Kucherlapati R; Beier DR. 2006. Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res 16(3):436-40. [PubMed: 16461637] [MGI Ref ID J:105913]
Reed V; Boyd Y. 1997. Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease. Hum Mol Genet 6(3):417-23. [PubMed: 9147645] [MGI Ref ID J:38978]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 Cryopreserved Embryos $1600.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 Cryopreserved Embryos $2080.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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| Important Note | |
| This strain is homozygous for the retinal degeneration allele Pde6brd1. | |
Control Information
| Control | ||
|---|---|---|
| Heterozygote female from the colony | ||
| Wild-type male from the colony | ||
| 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. | ||
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
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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.Ordering and Purchasing Information
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