Strain Name: |
CBA/J-Atp7aMo-pew/J |
|---|---|
Stock Number: |
000813 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Genes & Alleles | Atp7a; Atp7aMo-pew; Pde6b; Pde6brd1; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Coisogenic Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Mutant Strain Type JAX® GEMM® Strain - Spontaneous Mutation Species laboratory mouse H2 Haplotype k 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.Strain 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.)
Strain Development
Atp7aMo-pew occurred spontaneously in 1976 on the CBA/J inbred strain at The Jackson Laboratory.
Gene & Allele Details
| Allele Symbol | Atp7aMo-pew | ||
|---|---|---|---|
| Allele Name | pewter | ||
| 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; | ||
| General Note | Atp7aMo-pew, pewter, semidominant. The pewter allele arose in strain CBA/J at The Jackson Laboratory. Affected males are light grey and females are mottled. Males are usually viable and survivors are almost always fertile (J:23989). The pewterallele results from a missense mutation in the conserved transduction domain of Atp7a (J:39098). | ||
| Molecular Note | A spontaneous mutation that arose at The Jackson Laboratory in 1976. The molecular mutation is a G-to-A transition at position 3074 in exon 15 that alters the corresponding amino acid from an alanine to a threonine in a conserved region of the transduction domain of the encoded protein. [J:17492] [J:39098] | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Common Name(s) | rd; rd-1; rd1; rodless retina; | ||
Control Information
| Allele | Control | |
|---|---|---|
| Atp7aMo-pew | Heterozygote female from the colony | |
| Atp7aMo-pew | 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 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
Research Applications
This 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
References
Additional ReferencesPrice and Supply Information
| Strain Name: | CBA/J-Atp7aMo-pew/J |
| Stock Number: | 000813 |
Price Details
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to the Supply Notes for further information. |
|---|---|
| Supply Notes |
Cryopreserved Embryos This strain is also available as cryopreserved embryos from our Repository. Orders for cryopreserved embryos are supplied subject to a signed agreement that must be returned to the Customer Service Department after order placement. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos from our repository, please visit our Cryopreserved Embryos web page. 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. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. |
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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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