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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
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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 Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation ?+N94F1+N1p
Generation DefinitionsAppearance
black, small early size, sparse fur
Related Genotype: a/a Otcspf/Y
agouti, small early size, sparse fur
Related Genotype: A/? Otcspf/Y
black, normal size and coat
Related Genotype: a/a +/Y or a/a +/?
agouti, normal size and coat
Related Genotype: A/? +/Y or A/? +/?Important Note
Otcspf is incompletely recessive. Some heterozygous females display the mutant phenotype.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying A allele
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 003301 B6C3FeF1 a/A-Eya1bor/J 000314 B6CBACa Aw-J/A-EdaTa/J-XO 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 001811 B6EiC3Sn a/A-Otcspf-ash/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 (18 strains)
000507 B6 x B6EiC3 a/A-Otcspf/J
000507 B6 x B6EiC3 a/A-Otcspf/J 001811 B6EiC3Sn a/A-Otcspf-ash/J 001672 C57BL/6J-Otcspf-J/J
Phenotype
Phenotype Information
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). assigned by genotype
Otcspf/Otc+
involves: C3H/HeJ * C57BL/6J
- reproductive system phenotype
- reduced female fertility
- females are less fertile than controls (MGI Ref ID J:31237)
Otcspf/Y
involves: C3H/HeJ * C57BL/6J
- mortality/aging
- premature death
- mean life span is 42 days with 93% mortality by day 88 (MGI Ref ID J:31237)
- growth/size phenotype
- decreased body size
- smaller by 1 week of age (MGI Ref ID J:31237)
- weight loss
- 1-3 days before death, mutants exhibit substantial weight loss (MGI Ref ID J:31237)
- homeostasis/metabolism phenotype
- abnormal circulating amino acid level
- abnormal urine homeostasis
- urinary orotate excretion is elevated 13-fold (MGI Ref ID J:31237)
- increased circulating ammonia level
- plasma ammonium levels are increased (MGI Ref ID J:31237)
- behavior/neurological phenotype
- circling
- some moribund mice develop rapid circling behavior (MGI Ref ID J:31237)
- decreased eating behavior
- 1-3 days before death, mutants exhibit decreased feeding (MGI Ref ID J:31237)
- decreased grooming behavior
- 1-3 days before death, mutants exhibit a decrease in grooming that leads to an unkempt coat appearance (MGI Ref ID J:31237)
- hypoactivity
- 1-3 days before death, mutants exhibit a decrease in activity (MGI Ref ID J:31237)
- tonic-clonic seizures
- some moribund mice develop tonic-clonic seizures (MGI Ref ID J:31237)
- tremors
- some moribund mice develop ataxic tremor (MGI Ref ID J:31237)
- nervous system phenotype
- tonic-clonic seizures
- some moribund mice develop tonic-clonic seizures (MGI Ref ID J:31237)
- renal/urinary system phenotype
- abnormal urine homeostasis
- urinary orotate excretion is elevated 13-fold (MGI Ref ID J:31237)
- reproductive system phenotype
- priapism
- one-fifth of males remain runted, hairless and develop priapism (MGI Ref ID J:31237)
- integument phenotype
- sparse hair
- mutants have less fur by 1 week of age (MGI Ref ID J:31237)
- wrinkled skin (MGI Ref ID J:31237)
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Otcspf/Otc+
Background Not Specified
- homeostasis/metabolism phenotype
- abnormal circulating amino acid level
- citrulline and arginine concentrations are lower than in controls (MGI Ref ID J:23017)
- abnormal enzyme/coenzyme activity (MGI Ref ID J:23017)
- decreased ornithine carbamoyltransferase activity
- reduced activity of ornithine transcarbamylase (Otc) occurs in colon, small intestine, and liver (MGI Ref ID J:7789)
- aciduria
- mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine (MGI Ref ID J:23017)
- renal/urinary system phenotype
- aciduria
- mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine (MGI Ref ID J:23017)
- integument phenotype
- delayed hair appearance
- late fur development, however by weaning, fur looks normal; incomplete and variable penetrance (MGI Ref ID J:26975)
- focal hair loss
- incomplete and variable penetrance due to random X-inactivation (MGI Ref ID J:26975)
Otcspf/Otcspf
involves: CD-1
- homeostasis/metabolism phenotype
- abnormal amino acid level
- increase in serum and brain glutamine levels (MGI Ref ID J:784)
- abnormal metabolism
- alterations of cerebral metabolites; increase in ammonia, glutamine, alpha-ketoglutarate levels, glucose, and lactate levels in the brain and a decrease in glutamate content, ATP, pyruvate, and coA-SH levels (MGI Ref ID J:784)
- mitochondrial NADH/NAD+ ratios are lower than in controls while cytosolic NADH/NAD+ is higher in the brain and liver (MGI Ref ID J:784)
- increase in ammonia, glutamine, alpha-ketoglutarate, and lactate levels and decrease in ATP and pyruvate levels in the liver (MGI Ref ID J:784)
- increased circulating ammonia level (MGI Ref ID J:784)
Otcspf/Otcspf
Background Not Specified
- growth/size phenotype
- decreased body size
- young mice are runted (MGI Ref ID J:30359)
- integument phenotype
- abnormal coat appearance
- coat is thin and rough (MGI Ref ID J:30359)
- sparse hair (MGI Ref ID J:30359)
- wrinkled skin
- wrinkled skin is observed by 5-7 days of age; variable penetrance (MGI Ref ID J:30359)
Otcspf/Y
Background Not Specified
- growth/size phenotype
- decreased body size
- seen by 5-7 days after birth (MGI Ref ID J:23017)
- homeostasis/metabolism phenotype
- abnormal amino acid level
- ornithine and citrulline levels are lower in intestinal tissue (MGI Ref ID J:22268)
- abnormal circulating amino acid level
- circulating levels of arginine, citrulline and essential amino acids are reduced in suckling mice while plasma glutamine increases after weaning compared to controls (MGI Ref ID J:22268)
- glutamine concentration is high in the blood while threonine, tyrosine, arginine and citrulline levels are lower than in controls (MGI Ref ID J:23017)
- abnormal nucleotide metabolism
- livers show a 4-fold increase in uridine nucleotides and a 50% decrease in adenosine nucleotides (MGI Ref ID J:3633)
- aciduria
- mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine (MGI Ref ID J:23017)
- decreased ornithine carbamoyltransferase activity (MGI Ref ID J:23017)
- reduced activity of ornithine transcarbamylase (Otc) occurs in colon, small intestine, and liver (MGI Ref ID J:22268)
- increased circulating ammonia level
- mutants exhibit hyperammonemia (3x higher than in controls) that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine (MGI Ref ID J:23017)
- behavior/neurological phenotype
- abnormal behavior
- males with alopecia are somnolent (MGI Ref ID J:30359)
- liver/biliary system phenotype
- abnormal liver morphology
- increase in ammonia and glutamine concentrations in the liver and a decrease in arginine levels (MGI Ref ID J:23017)
- nervous system phenotype
- abnormal brain morphology
- abnormal brain ventricle morphology
- ventricular enlargement is observed in 4 week old mutants (MGI Ref ID J:48733)
- abnormal cerebral cortex pyramidal cell morphology
- significant decrease in the complexity of the dendritic arbor and in dendritic terminal spine density of layer V pyramidal cells in the frontoparietal cortex (MGI Ref ID J:48733)
- decreased brain size
- 4 week old mutants exhibit a reduced brain size, affecting both the cortex and striatum but showing ventricular enlargement (MGI Ref ID J:48733)
- abnormal dendrite morphology
- significant decrease in the complexity of the dendritic arbor and in dendritic terminal spine density of layer V pyramidal cells in the frontoparietal cortex (MGI Ref ID J:48733)
- renal/urinary system phenotype
- aciduria
- mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine (MGI Ref ID J:23017)
- urolithiasis
- integument phenotype
- alopecia (MGI Ref ID J:30359)
- sparse hair
- seen by 5-7 days after birth (MGI Ref ID J:23017)
Otcspf/Y
involves: C57BL/6
- nervous system phenotype
- abnormal brain morphology
- mutants show a decreased density of serotonin2 (5-HT2) receptors and increased density of serotonin1A (5-HT1A) receptors (MGI Ref ID J:1966)
- behavior/neurological phenotype
- abnormal head movements
- mutants exhibit a significantly decreased head twitch response in response to the serotonin agonist quipazine due to decreased density of 5-HT2 receptors (MGI Ref ID J:1966)
- homeostasis/metabolism phenotype
- abnormal body temperature homeostasis
- mutants show an increase in hypothermia induced by the highest doses of 8-hydroxy(di-n-propylamino)tetralin compared controls due to increased density of 5-HT1A receptors (MGI Ref ID J:1966)
Otcspf/Y
involves: 22A/R * C57BL/6J
- mortality/aging
- postnatal lethality
- growth/size phenotype
- decreased body size (MGI Ref ID J:5653)
- renal/urinary system phenotype
- abnormal urinary bladder morphology
- orotic acid urinary bladder stones occur frequently in hemizygous males (MGI Ref ID J:5653)
- homeostasis/metabolism phenotype
- decreased ornithine carbamoyltransferase activity
- severely reduced activity of liver ornithine transcarbamylase (MGI Ref ID J:5653)
- integument phenotype
- sparse hair
- absence or relative paucity of fur (MGI Ref ID J:5653)
- wrinkled skin (MGI Ref ID J:5653)
Otcspf/Y
involves: CD-1
- homeostasis/metabolism phenotype
- abnormal amino acid level
- increase in serum and brain glutamine levels (MGI Ref ID J:784)
- abnormal metabolism
- energy metabolism intermediates in both liver and brain are affected by hyperammonemia and sodium benzoate treatment can correct the energy metabolism abnormalities (MGI Ref ID J:2774)
- alterations of cerebral metabolites; increase in ammonia, glutamine, alpha-ketoglutarate levels, glucose, and lactate levels in the brain and a decrease in glutamate content, ATP, pyruvate, and coA-SH levels (MGI Ref ID J:784)
- mitochondrial NADH/NAD+ ratios are lower than in controls while cytosolic NADH/NAD+ is higher in the brain and liver (MGI Ref ID J:784)
- increase in ammonia, alpha-ketoglutarate, and lactate levels and decrease in ATP and pyruvate levels in the liver (MGI Ref ID J:784)
- abnormal enzyme/coenzyme activity (MGI Ref ID J:2774)
- choline acetyltransferase activity is reduced by 63% in cerebral cortex, 53% in thalamus, 36% in striatum, 35% in brainstem and 26% in hippocampus (MGI Ref ID J:23195)
- acetylcholine esterase activity is reduced by 28% in the thalamus but not other regions (MGI Ref ID J:23195)
- monoamine oxidase-A activities are decreased by 23% and 16% in cerebellum and brainstem, respectively, while monoamine oxidase-B activities are increased by 22%, 20%, and 22% in cerebellum, brainstem, and cerebral cortex, respectively (MGI Ref ID J:19848)
- decreased ornithine carbamoyltransferase activity
- hepatic ornithine transcarbamylase activity is less than 10% of controls (MGI Ref ID J:23195)
- aciduria
- mutants exhibit orotic aciduria that can be treated with various inhibitors such as N-(phosphonoacetyl)-L-aspartate and ornithine but mutants are insensitive to cycloheximide and acivicin (MGI Ref ID J:16786)
- increased circulating ammonia level (MGI Ref ID J:784)
- nervous system phenotype
- abnormal brain morphology
- brain ammonia levels are increased by 77% (MGI Ref ID J:23195)
- monoamine oxidase-A activities are decreased by 23% and 16% in cerebellum and brainstem, respectively, while monoamine oxidase-B activities are increased by 22%, 20%, and 22% in cerebellum, brainstem, and cerebral cortex, respectively (MGI Ref ID J:19848)
- peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the brain (MGI Ref ID J:21306)
- abnormal cholinergic neuron morphology
- a decrease in choline acetyltransferase-positive neurons is seen throughout the cerebral cortex, septal area, and diagonal band, indicating a loss of forebrain cholinergic neurons (MGI Ref ID J:23195)
- endocrine/exocrine gland phenotype
- abnormal testis morphology
- peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the testis (MGI Ref ID J:21306)
- liver/biliary system phenotype
- abnormal liver morphology
- peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the liver (MGI Ref ID J:21306)
- renal/urinary system phenotype
- abnormal kidney morphology
- peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the kidney (MGI Ref ID J:21306)
- aciduria
- mutants exhibit orotic aciduria that can be treated with various inhibitors such as N-(phosphonoacetyl)-L-aspartate and ornithine but mutants are insensitive to cycloheximide and acivicin (MGI Ref ID J:16786)
- reproductive system phenotype
- abnormal testis morphology
- peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the testis (MGI Ref ID J:21306)
- behavior/neurological phenotype
- impaired passive avoidance behavior
- perform poorly in a passive avoidance test, with 6 of 11 mice failing to learn to avoid an electrified grid compared to 1 of 12 in the controls (MGI Ref ID J:31237)
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
Genes & Alleles
Gene & Allele Information provided by MGI
| 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; 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 | ||
| Allele Name | sparse fur | ||
| Allele Type | Radiation induced | ||
| Common Name(s) | spf; | ||
| Gene Symbol and Name | Otc, ornithine transcarbamylase | ||
| Chromosome | X | ||
| Gene Common Name(s) | AI265390; OCTD; Sf; Sparse-fur; expressed sequence AI265390; sparse fur; spf; | ||
| 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] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| Molecular Note | Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats. The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type. [MGI Ref ID J:16984] [MGI Ref ID J:24934] | ||
References
References provided by MGI
Additional References
A relatedOtcspf 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]
Galbraith DB; Wolff GL; Brewer NL. 1979. Tissue microenvironment and the genetic control of hair pigment patterns in mice Dev Genet 1(2):167-179. [MGI Ref ID J:156092]
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]
Kelly EM. 1957. Beige, bg Mouse News Lett 16:36. [MGI Ref ID J:29744]
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]
Phillips RJS. 1966. A cis-trans position effect at the A locus of the house mouse. Genetics 54(2):485-95. [PubMed: 5968639] [MGI Ref ID J:5027]
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]
Siracusa LD; Washburn LL; Swing DA; Argeson AC; Jenkins NA; Copeland NG. 1995. Hypervariable yellow (Ahvy), a new murine agouti mutation: Ahvy displays the largest variation in coat color phenotypes of all known agouti alleles. J Hered 86(2):121-8. [PubMed: 7751596] [MGI Ref ID J:24247]
a relatedBatshaw ML; Robinson MB; Ye X; Pabin C; Daikhin Y; Burton BK; Wilson JM; Yudkoff M. 1999. Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency. Pediatr Res 46(5):588-93. [PubMed: 10541323] [MGI Ref ID J:59819]
Batshaw ML; Yudkoff M; McLaughlin BA; Gorry E; Anegawa NJ; Smith IA; Hyman SL; Robinson MB. 1995. The sparse fur mouse as a model for gene therapy in ornithine carbamoyltransferase deficiency. Gene Ther 2(10):743-9. [PubMed: 8750014] [MGI Ref ID J:31237]
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]
Blair PJ; Bultman SJ; Haas JC; Rouse BT; Wilkinson JE; Godfrey VL. 1994. CD4+CD8- T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse. J Immunol 153(8):3764-74. [PubMed: 7930593] [MGI Ref ID J:20865]
Briand P; Cathelineau L; Kamoun P; Gigot D; Penninckx M. 1981. Increase of ornithine transcarbamylase protein in sparse-fur mice with ornithine transcarbamylase deficiency. FEBS Lett 130(1):65-8. [PubMed: 6793393] [MGI Ref ID J:6591]
Chang X; Chen L; Wen J; Godfrey VL; Qiao G; Hussien Y; Zhang J; Gao JX. 2006. Foxp3 controls autoreactive T cell activation through transcriptional regulation of early growth response genes and E3 ubiquitin ligase genes, independently of thymic selection. Clin Immunol 121(3):274-85. [PubMed: 16945588] [MGI Ref ID J:115967]
Chang X; Gao JX; Jiang Q; Wen J; Seifers N; Su L; Godfrey VL; Zuo T; Zheng P; Liu Y. 2005. The Scurfy mutation of FoxP3 in the thymus stroma leads to defective thymopoiesis. J Exp Med 202(8):1141-51. [PubMed: 16230479] [MGI Ref ID J:116829]
Cupp MB. 1958. Sparse-fur, Sf Mouse News Lett 19:37. [MGI Ref ID J:26975]
D'Hooge R; Marescau B; Qureshi IA; De Deyn PP. 2000. Impaired cognitive performance in ornithine transcarbamylase-deficient mice on arginine-free diet Brain Res 876(1-2):1-9. [PubMed: 10973586] [MGI Ref ID J:64535]
DeMars R; LeVan SL; Trend BL; Russell LB. 1976. Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation. Proc Natl Acad Sci U S A 73(5):1693-7. [PubMed: 5727] [MGI Ref ID J:5653]
Deignan JL; Cederbaum SD; Grody WW. 2008. Contrasting features of urea cycle disorders in human patients and knockout mouse models. Mol Genet Metab 93(1):7-14. [PubMed: 17933574] [MGI Ref ID J:130077]
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]
Hopkins KJ; McKean J; Mervis RF; Oster-Granite ML. 1998. Dendritic alterations in cortical pyramidal cells in the sparse fur mouse. Brain Res 797(1):167-72. [PubMed: 9630607] [MGI Ref ID J:48733]
Hopkins KJ; Oster-Granite ML. 1998. Characterization of N-methyl-d-aspartate receptors in the hyperammonemic sparse fur mouse. Brain Res 797(2):209-17. [PubMed: 9666130] [MGI Ref ID J:48720]
Lichter-Konecki U; Mangin JM; Gordish-Dressman H; Hoffman EP; Gallo V. 2008. Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo. Glia 56(4):365-77. [PubMed: 18186079] [MGI Ref ID J:156285]
Malo C. 1994. Free amino acid levels in serum and small intestine during the post-natal development of normal and sparse-fur mutant mice. Comp Biochem Physiol A Physiol 109(4):1049-57. [PubMed: 7828023] [MGI Ref ID J:22268]
Nelson J; Qureshi IA; Vasudevan S; Sarma DS. 1993. The effects of various inhibitors on the regulation of orotic acid excretion in sparse-fur mutant mice (spf/Y) deficient in ornithine transcarbamylase. Chem Biol Interact 89(1):35-47. [PubMed: 8221965] [MGI Ref ID J:16786]
Qureshi IA; Leblanc D; Cyr D; Giguere R; Mitchell G. 1993. Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: testing the biochemical phenotype of double-mutant mice as a model for ammonia: fatty acyl CoA synergism. Biochem Biophys Res Commun 191(2):744-9. [PubMed: 8461026] [MGI Ref ID J:4165]
Qureshi IA; Letarte J; Ouellet R. 1985. Expression of ornithine transcarbamylase deficiency in the small intestine and colon of sparse-fur mutant mice. J Pediatr Gastroenterol Nutr 4(1):118-24. [PubMed: 3981356] [MGI Ref ID J:7789]
Rao KV; Mawal YR; Qureshi IA. 1997. Progressive decrease of cerebral cytochrome C oxidase activity in sparse-fur mice: role of acetyl-L-carnitine in restoring the ammonia-induced cerebral energy depletion. Neurosci Lett 224(2):83-6. [PubMed: 9086462] [MGI Ref ID J:41534]
Rao VL; Qureshi IA; Butterworth RF. 1994. Activities of monoamine oxidase-A and -B are altered in the brains of congenitally hyperammonemic sparse-fur (spf) mice. Neurosci Lett 170(1):27-30. [PubMed: 8041507] [MGI Ref ID J:19848]
Rao VL; Qureshi IA; Butterworth RF. 1993. Increased densities of binding sites for the peripheral-type benzodiazepine receptor ligand [3H]PK 11195 in congenital ornithine transcarbamylase-deficient sparse fur mouse. Pediatr Res 34(6):777-80. [PubMed: 8108192] [MGI Ref ID J:21306]
Ratnakumari L; Qureshi IA; Butterworth RF. 1991. Effect of sodium benzoate on cerebral and hepatic energy metabolites in spf mice with congenital hyperammonemia Biochem Pharmacol 45(1):137-46. [PubMed: 8424807] [MGI Ref ID J:2774]
Ratnakumari L; Qureshi IA; Butterworth RF. 1992. Effects of congenital hyperammonemia on the cerebral and hepatic levels of the intermediates of energy metabolism in spf mice. Biochem Biophys Res Commun 184(2):746-51. [PubMed: 1575747] [MGI Ref ID J:784]
Ratnakumari L; Qureshi IA; Butterworth RF. 1994. Evidence for cholinergic neuronal loss in brain in congenital ornithine transcarbamylase deficiency. Neurosci Lett 178(1):63-5. [PubMed: 7816342] [MGI Ref ID J:23195]
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Martinez HG; Quinones MP; Jimenez F; Estrada CA; Clark K; Muscogiuri G; Sorice G; Musi N; Reddick RL; Ahuja SS. 2011. Critical role of chemokine (C-C motif) receptor 2 (CCR2) in the KKAy + Apoe -/- mouse model of the metabolic syndrome. Diabetologia 54(10):2660-8. [PubMed: 21779871] [MGI Ref ID J:177084]
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Miyazaki M; Sampath H; Liu X; Flowers MT; Chu K; Dobrzyn A; Ntambi JM. 2009. Stearoyl-CoA desaturase-1 deficiency attenuates obesity and insulin resistance in leptin-resistant obese mice. Biochem Biophys Res Commun 380(4):818-22. [PubMed: 19338759] [MGI Ref ID J:147343]
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Health & husbandry
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.
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.Colony Maintenance
Breeding & Husbandry Since most heterozygous females are normal in appearance and thus indistinguishable from wild type, a two generation breeding scheme is used: B6EiC3SnFa-a/A females are bred to hemizygous males producing obligate heterozygous females which are then bred to B6EiC3SnFa-a/A males to produce phenotypically apparent hemizygous males, etc.
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $1980.00 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
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We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2574.00 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
- Cryorecovery - Standard.
We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
General Supply Notes
- This strain is included in the Mouse Mutant Resource collection.
- Genomic DNA is available for this strain from the Mouse DNA Resource.
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Important Note
Otcspf is incompletely recessive. Some heterozygous females display the mutant phenotype.
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JAX® Mice, Products & Services Conditions of Use
"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.No Warranty
MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.
In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.
No Liability
In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.
MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.
The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.
Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.