Strain Name: |
B6EiC3Sn a/A-Otcspf-ash/J |
|---|---|
Stock Number: |
001811 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Genes & Alleles | A; Otc; Otcspf-ash; a; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Spontaneous Mutation Species laboratory mouse Generation N46F1pN1 Appearance
black, small body size, sparse fur
Related Genotype: a/a Otcspf-ash/Y
agouti, small body size, sparse fur
Related Genotype: A/? Otcspf-ash/Y
black, normal fur and body size
Related Genotype: a/a +/? or a/a +/Y
agouti, normal fur and body size
Related Genotype: A/? +/? or A/? +/Y
Mammalian Phenotype Terms assigned by genotype |
Gene & Allele Details
| Allele Symbol | A | ||
|---|---|---|---|
| Allele Name | wild type | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; MGC126092; MGC126093; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| Allele Symbol | Otcspf-ash | ||
| Allele Name | abnormal skin and hair | ||
| Common Name(s) | spf-ash; spfash; | ||
| Gene Symbol and Name | Otc, ornithine transcarbamylase | ||
| Chromosome | X | ||
| Gene Common Name(s) | AI265390; MGC108742; MGC129967; MGC129968; MGC138856; OCTD; Sf; Sparse-fur; expressed sequence AI265390; sparse fur; spf; | ||
| General Note |
Homozygous mutant mice have normal ornithine transcarbamylase enzyme, in sharply decreased quantity (J:26976). OTC activity in liver is reduced to 8% of normal in hemizygous males and to 55% of normal in heterozygous females (J:7199). Introduction of a rat OTC transgene into Otcspf-ash mice normalizes the phenotype and orotic acid excretion of the mutant mice (J:26977). Transgenic mice subjected to nitrogen loading excrete increased amounts of orotic acid in association with liver and small intestine OTC activity, with a higher correlation to intestinal than to liver activity (J:23205). | ||
| Molecular Note | A G to A missense transition of the last nucleotide of exon 4 changes an arginine to histidine (R129H) and results in inefficient mRNA splicing at this site, as well as at a site located 48 bases into the adjacent intron. This allele is hypomorphic; approximately 5-10% of wild type hepatic enzyme activity is retained. [MGI Ref ID J:9817] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
Control Information
| Allele | Control | |
|---|---|---|
| Otcspf-ash | Wild-type from the colony | |
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying A allele
003301 (C57BL/6J x C3H-Eya1bor)F1/J 002083 B6 x B6EiC3 a/A-T(7;16)235Dn/J 000507 B6 x B6EiC3 a/A-Otcspf/J 000628 B6.CE-A Amy1b Amy2b/J 004200 B6;CBACa Aw-J/A-Npr2cn-2J/J 000604 B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J 001752 B6CBCa Aw-J/A-T(7;15)9H/J 006450 B6EiC3 a/A-Vss/J 000557 B6EiC3-+ a/LnpUl A/J 000504 B6EiC3Sn a/A-Cacnb4lh/J 000553 B6EiC3Sn a/A-Egfrwa2 Wnt3avt/J 002343 B6EiC3Sn a/A-Otcspf/J 001923 B6EiC3Sn a/A-Ts(417)2Lws Tim/J 000200 C3FeB6 A/Aw-J-Ankank/J 000638 C3FeB6 A/Aw-J-Spnb4qv-J/J 000283 LT.CAST-A/J 001759 STOCK A Tyrc Sha/J View Strains carrying A (17 strains)
000507 B6 x B6EiC3 a/A-Otcspf/J 002343 B6EiC3Sn a/A-Otcspf/J 001672 C57BL/6J-Otcspf-J/J
Research Applications
This mouse can be used to support research in many areas including:Otcspf-ash related
Dermatology Research
Skin and Hair Texture Defects
Metabolism Research
Mouse/Human Gene Homologs
ornithine transcarbamylase deficiency
References
Additional ReferencesPrice and Supply Information
| Strain Name: | B6EiC3Sn a/A-Otcspf-ash/J |
| Stock Number: | 001811 |
Price Details
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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. |
| 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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