Strain Name: |
B6 x B6EiC3 a/A-Otcspf/J |
|---|---|
Stock Number: |
000507 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Genes & Alleles | A; Otc; Otcspf; a; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Species laboratory mouse Generation N21p Important Note
Otcspf is incompletely recessive. Some heterozygous females display the mutant phenotype.
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 | ||
| Allele Name | sparse fur | ||
| Common Name(s) | spf; | ||
| 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 |
Orotic acid urinary bladder stones occur frequently in hemizygous males and homozygous females. These mice have an abnormal ornithine transcarbamylase enzyme (OTC). Otcspf/Y males have severely reduced activity of liver OTC. Heterozygous females have intermediate activity (J:5653). Defective activity of OTC in mutant mice occurs in colon and small intestine as well as in liver (J:7789). Levels of free amino acids, in particular ornithine, citrulline, and arginine, are reduced in small intestine of Otcspf mice (J:22268). At pH 8.0, the optimum pH for normal OTC, affected males have only 25% of normal activity of OTC. At pH 9, OTC activity is 150% of normal with an increase in amount of OTC protein and a higher specific activity,due to the abnormal OTC molecule encoded by Otcspf (J:6591). Brain serotonin receptors are altered in sparse fur mice (J:1966), and cholinergic neurons appear to be lost (J:23195). Monoamine oxidases also show altered levels in brains of sparse fur mice (J:19848), and benzodiazepine receptors were increased in density in both brain and peripheral organs (kidney, liver, testis) (J:21306). As a result of the altered nitrogen metabolism proceeding from the disruption of the urea cycle in Otcspf hemizygotes and homozygotes, these mice develop hyperammonemia. Energy metabolism intermediates in both liver and brain are affected by this state. Sodium benzoate treatment can have a beneficial effect in correcting the energy metabolism abnormalities (J:2774).Liver nucleotide pools in sparse fur mutant mice are abnormal, with a decrease in uridine and an increase in adenosine nucleotides. Tumor promotion by orotic acid may depend on the creation of such an imbalance (J:3633). The effect of various inhibitors on orotic acid excretion in sparse fur mutants has been studied (J:16786). Inactivating ornithine aminotransferase with 5-fluoromethylornithine raises concentrations of ornithine sufficiently to enhance citrulline formation and decrease orotic aciduria and hyperammonemia in Otcspf mice (J:23017). Mice with a combination of Acadsdel-J and this allele have been proposed as a model to study ammonia: fatty acid acyl CoA synergism. The combination increases the elevation in urinary butyrylglycine, but not in ethylmalonate or methylsuccinate present in the Acads mutants; it decreases the elevation of orotic acid found in the sparse fur mutant (J:4165). | ||
| Molecular Note | A C to A missense transversion mutation in exon 4 changes a histidine to asparagine (H117N), creating a hypomorphic allele. About 10% of normal liver enzyme activity remains in mutant mice. [MGI Ref ID J:8786] | ||
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 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 001811 B6EiC3Sn a/A-Otcspf-ash/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)
002343 B6EiC3Sn a/A-Otcspf/J
001811 B6EiC3Sn a/A-Otcspf-ash/J 001672 C57BL/6J-Otcspf-J/J
Research Applications
This mouse can be used to support research in many areas including:Otcspf 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: | B6 x B6EiC3 a/A-Otcspf/J |
| Stock Number: | 000507 |
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 |
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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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