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Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. 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
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
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 Amy2a5b/J 004200 B6;CBACa Aw-J/A-Npr2cn-2J/GrsrJ 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/GrsrJ 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 TimT(4;17)3Lws/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)
Strains carrying a allele
View Strains carrying a (104 strains)
Strains carrying other alleles of Otc
000507 B6 x B6EiC3 a/A-Otcspf/J 002343 B6EiC3Sn a/A-Otcspf/J 001672 C57BL/6J-Otcspf-J/J View Strains carrying other alleles of Otc (3 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (67 strains)
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to - 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
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Otcspf-ash/Otc+
Background Not Specified
- skin/coat/nails phenotype
- partial hair loss (MGI Ref ID J:5476)
- most heterozygous females appear normal but many show some hair loss
Otcspf-ash/Otc+
involves: C57BL/6
- homeostasis/metabolism phenotype
- abnormal urine homeostasis (MGI Ref ID J:23205)
- females excrete significantly higher concentrations of orotic acid than controls during starvation
- under a nitrogen load of 5.6 g tryptone/kg body mass, urinary orotic acid excretion increases even more
- renal/urinary system phenotype
- abnormal urine homeostasis (MGI Ref ID J:23205)
- females excrete significantly higher concentrations of orotic acid than controls during starvation
- under a nitrogen load of 5.6 g tryptone/kg body mass, urinary orotic acid excretion increases even more
Otcspf-ash/Y
Background Not Specified
- skin/coat/nails phenotype
- sparse hair (MGI Ref ID J:26977)
- wrinkled skin (MGI Ref ID J:26977)
- homeostasis/metabolism phenotype
- abnormal enzyme/coenzyme activity (MGI Ref ID J:7199)
- liver extracts from hemizygous males have 5-10% of normal ornithine transcarbamylase activity
- mitochondrial specific activity of carbamoyl-phosphate synthetase (ammonia) and glutamate dehydrogenase is about 15% lower than in controls
- citrate synthase activity is increased in the liver but specific activity in mitochondria is similar to controls
- activities of beta-hydroxybutyrate dehydrogenase and cytochrome oxidase are 22% higher and 30% lower, respectively, in the liver
- abnormal protein level (MGI Ref ID J:26976)
- mutants show a 12% and 33% increase in total liver and mitochondrial protein content, respectively, compared to controls
- abnormal urine homeostasis (MGI Ref ID J:26977)
- orotic aciduria
- increased circulating ammonia level (MGI Ref ID J:26977)
- renal/urinary system phenotype
- abnormal urine homeostasis (MGI Ref ID J:26977)
- orotic aciduria
- cellular phenotype
- abnormal mitochondrial physiology (MGI Ref ID J:26976)
- coupled and uncoupled mitochodria synthesize citrulline at unexpectedly high rates in the presence of 10 mM ornithine and the substrates for carbamoyl phosphate synthesis, however these rates are somewhat lower than rates of normal mitochondria; this difference arises from a lower carbamoyl-phosphate synthetase activity
- at external ornithine concentrations of less than 2 mM, a smaller fraction of the carbamoyl phophate synthesized is converted into citrulline than in controls
- liver/biliary system phenotype
- enlarged liver (MGI Ref ID J:26976)
- increased liver weight (MGI Ref ID J:26976)
- liver weight per unit body weight is about 20% greater than normal
Otcspf-ash/Y
involves: C57BL/6
- homeostasis/metabolism phenotype
- abnormal homeostasis (MGI Ref ID J:23205)
- concentration of carbamylphosphate in the small intestine during starvation is about 3 times that of controls
- abnormal urine homeostasis (MGI Ref ID J:23205)
- males excrete significantly higher concentrations of orotic acid than controls during starvation
- under a stressful condition of a nitrogen load of 5.6 g tryptone/kg body mass, urinary orotic acid excretion increases even more
- immune system phenotype
- increased susceptibility to parasitic infection (MGI Ref ID J:23205)
- most mutants parasitized with mouse ticks (Myocoptes musculinus) do not survive
- life span-post-weaning/aging
- increased sensitivity to induced morbidity/mortality (MGI Ref ID J:23205)
- most mutants parasitized with mouse ticks (Myocoptes musculinus) do not survive
- renal/urinary system phenotype
- abnormal urine homeostasis (MGI Ref ID J:23205)
- males excrete significantly higher concentrations of orotic acid than controls during starvation
- under a stressful condition of a nitrogen load of 5.6 g tryptone/kg body mass, urinary orotic acid excretion increases even more
Otcspf-ash/Y
B6EiC3Sn a/A-Otcspf-ash/J
- behavior/neurological phenotype
- abnormal spatial learning (MGI Ref ID J:108979)
- mutants are unable to locate the hidden platform by day 4 in the Morris water maze compared to wild-type which find it by this time
- abnormal spatial reference memory (MGI Ref ID J:108979)
- mutants are unable to locate the hidden platform by day 4 in the Morris water maze compared to wild-type which find it by this time
- abnormal spatial working memory (MGI Ref ID J:108979)
- in a two trial Y-maze, mutants show reduced retention memory, unable to distinguish the novel arm from the other two arms
- growth/size phenotype
- decreased body size (MGI Ref ID J:108979)
- smaller than mature 6-7 month old wild-type mice
- homeostasis/metabolism phenotype
- increased circulating ammonia level (MGI Ref ID J:108979)
- immune system phenotype
- increased susceptibility to endotoxin shock (MGI Ref ID J:108979)
- mutants are more sensitive to immune challenge with LPS than wild-type, with significant delay in recovery time from sickness
View Research Applications
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
| Allele Symbol | A | ||
|---|---|---|---|
| Allele Name | wild type agouti | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | dark-bellied agouti; | ||
| Strain of Origin | various | ||
| 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; | ||
| General Note | The A allele is usually regarded as a wild-type allele. Hairs are black with a subapical yellow band. This black-yellow-black pattern is referred to as agouti. The general appearance is yellowish brown, slightly lighter on the belly than on the back. | ||
| Molecular Note | This allele, often referred to as wild-type, comprises a novel 131 amino acid protein encoded in a gene comprising four exons, three coding, spanning 18kb. Unique changes in this gene account for all other alleles that have been molecularly characterized. The expression of this allele is almost always dominant to other alleles of this gene. [MGI Ref ID J:3523] | ||
| Allele Symbol | Otcspf-ash | ||
| Allele Name | abnormal skin and hair | ||
| Allele Type | Spontaneous | ||
| 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; | ||
| 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 | ||
| Allele Type | Spontaneous | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
de Jonge WJ; Hallemeesch MM; Kwikkers KL; Ruijter JM; de Gier-de Vries C; van Roon MA; Meijer AJ; Marescau B; de Deyn PP; Deutz NE; Lamers WH. 2002. Overexpression of arginase I in enterocytes of transgenic mice elicits a selective arginine deficiency and affects skin, muscle, and lymphoid development. Am J Clin Nutr 76(1):128-40. [PubMed: 12081826] [MGI Ref ID J:80556]
A relatedOtcspf-ash relatedBlewitt ME; Vickaryous NK; Hemley SJ; Ashe A; Bruxner TJ; Preis JI; Arkell R; Whitelaw E. 2005. An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse. Proc Natl Acad Sci U S A 102(21):7629-34. [PubMed: 15890782] [MGI Ref ID J:99816]
Bultman SJ; Michaud EJ; Woychik RP. 1992. Molecular characterization of the mouse agouti locus. Cell 71(7):1195-204. [PubMed: 1473152] [MGI Ref ID J:3523]
Bundschuh VG; Madry M. 1988. [atwp mutation in an albino mouse substrain (AB/Hum-1)] Z Versuchstierkd 31(6):249-54. [PubMed: 3227730] [MGI Ref ID J:16568]
Czyzyk TA; Sikorski MA; Yang L; McKnight GS. 2008. Disruption of the RIIbeta subunit of PKA reverses the obesity syndrome of Agouti lethal yellow mice. Proc Natl Acad Sci U S A 105(1):276-81. [PubMed: 18172198] [MGI Ref ID J:131039]
Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. [PubMed: 5798139] [MGI Ref ID J:30922]
Dry FW. 1928. The agouti coloration of the mouse (Mus Musculus) and the rat (Mus Norvegicus). J Genet 20:131-144. [MGI Ref ID J:46318]
Guido V, and The Mouse Mutant Resource (MMR) at The Jackson Laboratory. 2002. Two new mutations of white bellied agouti, w-46J and w-47J MGI Direct Data Submission :. [MGI Ref ID J:77218]
Jackson IJ; Budd PS; Keighren M; McKie L. 2007. Humanized MC1R transgenic mice reveal human specific receptor function. Hum Mol Genet 16(19):2341-8. [PubMed: 17652101] [MGI Ref ID J:129904]
Mather K; North SB. 1940. Umbrous: a case of dominance modification in mice. J Genet 40:229-41. [MGI Ref ID J:280]
Perry WL; Copeland NG; Jenkins NA. 1994. The molecular basis for dominant yellow agouti coat color mutations. Bioessays 16(10):705-7. [PubMed: 7980472] [MGI Ref ID J:21244]
Quevedo WC Jr.; Chase HB. 1958. An analysis of the light mutation of coat color in mice. J Morphol 102:329-345. [MGI Ref ID J:13094]
Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York. [MGI Ref ID J:78801]
Bell P; Moscioni AD; McCarter RJ; Wu D; Gao G; Hoang A; Sanmiguel JC; Sun X; Wivel NA; Raper SE; Furth EE; Batshaw ML; Wilson JM. 2006. Analysis of tumors arising in male B6C3F1 mice with and without AAV vector delivery to liver. Mol Ther 14(1):34-44. [PubMed: 16682254] [MGI Ref ID J:115067]
Cavard C; Grimber G; Dubois N; Chasse JF; Bennoun M; Minet-Thuriaux M; Kamoun P; Briand P. 1988. Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line. Nucleic Acids Res 16(5):2099-110. [PubMed: 3162766] [MGI Ref ID J:26977]
Cohen NS; Cheung CW; Raijman L. 1989. Altered enzyme activities and citrulline synthesis in liver mitochondria from ornithine carbamoyltransferase-deficient sparse-furash mice. Biochem J 257(1):251-7. [PubMed: 2920015] [MGI Ref ID J:26976]
Doolittle DP; Hulbert LL; Cordy C. 1974. A new allele of the sparse fur gene in the mouse. J Hered 65(3):194-5. [PubMed: 4603259] [MGI Ref ID J:5476]
Hodges PE; Rosenberg LE. 1989. The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing. Proc Natl Acad Sci U S A 86(11):4142-6. [PubMed: 2471197] [MGI Ref ID J:9817]
Li MX; Nakajima T; Fukushige T; Kobayashi K; Seiler N; Saheki T. 1999. Aberrations of ammonia metabolism in ornithine carbamoyltransferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator. Biochim Biophys Acta 1455(1):1-11. [PubMed: 10524224] [MGI Ref ID J:57489]
Luiking YC; Hallemeesch MM; van de Poll MC; Dejong CH; de Jonge WJ; Lamers WH; Deutz NE. 2008. Reduced citrulline availability by OTC deficiency in mice is related to reduced nitric oxide production. Am J Physiol Endocrinol Metab 295(6):E1315-22. [PubMed: 18697914] [MGI Ref ID J:143948]
Marini JC; Broussard SR. 2006. Hyperammonemia increases sensitivity to LPS. Mol Genet Metab 88(2):131-7. [PubMed: 16497529] [MGI Ref ID J:108979]
Marini JC; Erez A; Castillo L; Lee B. 2007. Interaction between murine spf-ash mutation and genetic background yields different metabolic phenotypes. Am J Physiol Endocrinol Metab 293(6):E1764-71. [PubMed: 17925451] [MGI Ref ID J:130094]
Marini JC; Lee B; Garlick PJ. 2006. Ornithine restores ureagenesis capacity and mitigates hyperammonemia in Otc(spf-ash) mice. J Nutr 136(7):1834-8. [PubMed: 16772445] [MGI Ref ID J:114947]
Marini JC; Lee B; Garlick PJ. 2006. Reduced ornithine transcarbamylase activity does not impair ureagenesis in Otc(spf-ash) mice. J Nutr 136(4):1017-20. [PubMed: 16549467] [MGI Ref ID J:112832]
Rosenberg LE; Kalousek F; Orsulak MD. 1983. Biogenesis of ornithine transcarbamylase in spfash mutant mice: two cytoplasmic precursors, one mitochondrial enzyme. Science 222(4622):426-8. [PubMed: 6623083] [MGI Ref ID J:7199]
Saheki T; Mori K; Kobayashi K; Horiuchi M; Shige T; Obara T; Suzuki S; Mori M; Yamamura K. 1995. Importance of ornithine transcarbamylase (OTC) deficiency in small intestine for urinary orotic acid excretion: analysis of OTC-deficient spf-ash mice with OTC transgene. Biochim Biophys Acta 1270(1):87-93. [PubMed: 7827141] [MGI Ref ID J:23205]
Shiojiri N; Imai H; Goto S; Ohta T; Ogawa K; Mori M. 1997. Mosaic pattern of ornithine transcarbamylase expression in spfash mouse liver. Am J Pathol 151(2):413-21. [PubMed: 9250154] [MGI Ref ID J:42523]
Shiojiri N; Inujima S; Ishikawa K; Terada K; Mori M. 2001. Cell lineage analysis during liver development using the spf(ash)-heterozygous mouse. Lab Invest 81(1):17-25. [PubMed: 11204270] [MGI Ref ID J:67189]
Shiojiri N; Sano M; Inujima S; Nitou M; Kanazawa M; Mori M. 2000. Quantitative analysis of cell allocation during liver development, using the spf(ash)-heterozygous female mouse. Am J Pathol 156(1):65-75. [PubMed: 10623655] [MGI Ref ID J:59364]
Sundberg JP (ed.). 1994. . In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. CRC Press, Boca Raton. [MGI Ref ID J:30359]
Zimmer KP; Bendiks M; Mori M; Kominami E; Robinson MB; Ye X ; Wilson JM. 1999. Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency. Mol Med 5(4):244-53. [PubMed: 10448647] [MGI Ref ID J:55968]
de Jonge WJ; Hallemeesch MM; Kwikkers KL; Ruijter JM; de Gier-de Vries C; van Roon MA; Meijer AJ; Marescau B; de Deyn PP; Deutz NE; Lamers WH. 2002. Overexpression of arginase I in enterocytes of transgenic mice elicits a selective arginine deficiency and affects skin, muscle, and lymphoid development. Am J Clin Nutr 76(1):128-40. [PubMed: 12081826] [MGI Ref ID J:80556]
de Jonge WJ; Kwikkers KL; te Velde AA; van Deventer SJ; Nolte MA; Mebius RE; Ruijter JM; Lamers MC; Lamers WH. 2002. Arginine deficiency affects early B cell maturation and lymphoid organ development in transgenic mice. J Clin Invest 110(10):1539-48. [PubMed: 12438451] [MGI Ref ID J:80204]
Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 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.
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 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.
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
|
| Control | ||
|---|---|---|
| Wild-type 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. | ||
Purchasing Information
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Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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