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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; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N21p Important Note
Otcspf is incompletely recessive. Some heterozygous females display the mutant phenotype.
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 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 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
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 (MGI Ref ID J:31237)
- females are less fertile than controls
Otcspf/Y
involves: C3H/HeJ * C57BL/6J
- life span-post-weaning/aging
- premature death (MGI Ref ID J:31237)
- mean life span is 42 days with 93% mortality by day 88
- growth/size phenotype
- decreased body size (MGI Ref ID J:31237)
- smaller by 1 week of age
- weight loss (MGI Ref ID J:31237)
- 1-3 days before death, mutants exhibit substantial weight loss
- homeostasis/metabolism phenotype
- abnormal circulating amino acid level (MGI Ref ID J:31237)
- plasma glutamine is 160% of control values
- plasma citrulline is 25% of control levels
- plasma ornithine and arginine are reduced
- abnormal urine homeostasis (MGI Ref ID J:31237)
- urinary orotate excretion is elevated 13-fold
- increased circulating ammonia level (MGI Ref ID J:31237)
- plasma ammonium levels are increased
- behavior/neurological phenotype
- circling (MGI Ref ID J:31237)
- some moribund mice develop rapid circling behavior
- decreased eating behavior (MGI Ref ID J:31237)
- 1-3 days before death, mutants exhibit decreased feeding
- decreased grooming behavior (MGI Ref ID J:31237)
- 1-3 days before death, mutants exhibit a decrease in grooming that leads to an unkempt coat appearance
- hypoactivity (MGI Ref ID J:31237)
- 1-3 days before death, mutants exhibit a decrease in activity
- tonic-clonic seizures (MGI Ref ID J:31237)
- some moribund mice develop tonic-clonic seizures
- tremors (MGI Ref ID J:31237)
- some moribund mice develop ataxic tremor
- hearing/vestibular/ear phenotype
- circling (MGI Ref ID J:31237)
- some moribund mice develop rapid circling behavior
- nervous system phenotype
- tonic-clonic seizures (MGI Ref ID J:31237)
- some moribund mice develop tonic-clonic seizures
- renal/urinary system phenotype
- abnormal urine homeostasis (MGI Ref ID J:31237)
- urinary orotate excretion is elevated 13-fold
- reproductive system phenotype
- priapism (MGI Ref ID J:31237)
- one-fifth of males remain runted, hairless and develop priapism
- skin/coat/nails phenotype
- sparse hair (MGI Ref ID J:31237)
- mutants have less fur by 1 week of age
- 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
- skin/coat/nails phenotype
- delayed hair appearance (MGI Ref ID J:26975)
- late fur development, however by weaning, fur looks normal; incomplete and variable penetrance
- patchy hair (MGI Ref ID J:26975)
- incomplete and variable penetrance
- homeostasis/metabolism phenotype
- abnormal circulating amino acid level (MGI Ref ID J:23017)
- citrulline and arginine concentrations are lower than in controls
- abnormal enzyme/coenzyme activity (MGI Ref ID J:23017)
- reduced activity of ornithine transcarbamylase (Otc) occurs in colon, small intestine, and liver
- abnormal urine homeostasis (MGI Ref ID J:23017)
- mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine
- renal/urinary system phenotype
- abnormal urine homeostasis (MGI Ref ID J:23017)
- mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine
Otcspf/Otcspf
involves: CD-1
- homeostasis/metabolism phenotype
- abnormal amino acid level (MGI Ref ID J:784)
- increase in serum and brain glutamine levels
- abnormal metabolism (MGI Ref ID J:784)
- 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
- mitochondrial NADH/NAD+ ratios are lower than in controls while cytosolic NADH/NAD+ is higher in the brain and liver
- increase in ammonia, glutamine, alpha-ketoglutarate, and lactate levels and decrease in ATP and pyruvate levels in the liver
- increased circulating ammonia level (MGI Ref ID J:784)
Otcspf/Otcspf
Background Not Specified
- growth/size phenotype
- decreased body size (MGI Ref ID J:30359)
- young mice are runted
- skin/coat/nails phenotype
- abnormal coat appearance (MGI Ref ID J:30359)
- coat is thin and rough
- sparse hair (MGI Ref ID J:30359)
- wrinkled skin (MGI Ref ID J:30359)
- wrinkled skin is observed by 5-7 days of age; variable penetrance
Otcspf/Y
Background Not Specified
- growth/size phenotype
- decreased body size (MGI Ref ID J:23017)
- seen by 5-7 days after birth
- skin/coat/nails phenotype
- alopecia (MGI Ref ID J:30359)
- sparse hair (MGI Ref ID J:23017)
- seen by 5-7 days after birth
- homeostasis/metabolism phenotype
- abnormal amino acid level (MGI Ref ID J:22268)
- ornithine and citrulline levels are lower in intestinal tissue
- abnormal circulating amino acid level (MGI Ref ID J:22268)
- circulating levels of arginine, citrulline and essential amino acids are reduced in suckling mice while plasma glutamine increases after weaning compared to controls
- glutamine concentration is high in the blood while threonine, tyrosine, arginine and citrulline levels are lower than in controls
- abnormal enzyme/coenzyme activity (MGI Ref ID J:23017)
- reduced activity of ornithine transcarbamylase (Otc) occurs in colon, small intestine, and liver
- abnormal nucleotide metabolism (MGI Ref ID J:3633)
- livers show a 4-fold increase in uridine nucleotides and a 50% decrease in adenosine nucleotides
- abnormal urine homeostasis (MGI Ref ID J:23017)
- mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine
- increased circulating ammonia level (MGI Ref ID J:23017)
- mutants exhibit hyperammonemia (3x higher than in controls) that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine
- behavior/neurological phenotype
- abnormal behavior (MGI Ref ID J:30359)
- males with alopecia are somnolent
- hyperactivity (MGI Ref ID J:30359)
- males are jittery and excited and the total number of entries into an arm of the Y maze is higher than in control males
- liver/biliary system phenotype
- abnormal liver morphology (MGI Ref ID J:23017)
- increase in ammonia and glutamine concentrations in the liver and a decrease in arginine levels
- nervous system phenotype
- abnormal brain morphology (MGI Ref ID J:23017)
- increase in ammonia and glutamine concentrations in the brain and a decrease in arginine levels
- spermidine and N-acetylspermidine concentrations are lower in the brains of mutants than in controls
- abnormal brain ventricle morphology (MGI Ref ID J:48733)
- ventricular enlargement is observed in 4 week old mutants
- abnormal pyramidal neuron morphology (MGI Ref ID J:48733)
- significant decrease in the complexity of the dendritic arbor and in dendritic terminal spine density of layer V pyramidal cells in the frontoparietal cortex
- decreased brain size (MGI Ref ID J:48733)
- 4 week old mutants exhibit a reduced brain size, affecting both the cortex and striatum but showing ventricular enlargement
- abnormal dendrite morphology (MGI Ref ID J:48733)
- significant decrease in the complexity of the dendritic arbor and in dendritic terminal spine density of layer V pyramidal cells in the frontoparietal cortex
- renal/urinary system phenotype
- abnormal urine homeostasis (MGI Ref ID J:23017)
- mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine
- urolithiasis (MGI Ref ID J:30359)
- light brown uroliths (stones in urinary bladder)
- stones consist mostly of orotic acid
Otcspf/Y
involves: C57BL/6
- nervous system phenotype
- abnormal brain morphology (MGI Ref ID J:1966)
- mutants show a decreased density of serotonin2 (5-HT2) receptors and increased density of serotonin1A (5-HT1A) receptors
- behavior/neurological phenotype
- abnormal head movements (MGI Ref ID J:1966)
- mutants exhibit a significantly decreased head twitch response in response to the serotonin agonist quipazine due to decreased density of 5-HT2 receptors
- homeostasis/metabolism phenotype
- abnormal body temperature regulation (MGI Ref ID J:1966)
- 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
Otcspf/Y
involves: 22A/R * C57BL/6J
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:5653)
- hemizygous males show a high mortality rate by weaning that decreases with crossing into C57BL/6J background
- survival past weaning increases when mice are placed on a low-protein diet at 20-21 days of age
- growth/size phenotype
- decreased body size (MGI Ref ID J:5653)
- renal/urinary system phenotype
- abnormal urinary bladder morphology (MGI Ref ID J:5653)
- orotic acid urinary bladder stones occur frequently in hemizygous males
- skin/coat/nails phenotype
- sparse hair (MGI Ref ID J:5653)
- absence or relative paucity of fur
- wrinkled skin (MGI Ref ID J:5653)
- homeostasis/metabolism phenotype
- abnormal enzyme/coenzyme activity (MGI Ref ID J:5653)
- severely reduced activity of liver ornithine transcarbamylase
Otcspf/Y
involves: CD-1
- homeostasis/metabolism phenotype
- abnormal amino acid level (MGI Ref ID J:784)
- increase in serum and brain glutamine levels
- abnormal metabolism (MGI Ref ID J:2774)
- energy metabolism intermediates in both liver and brain are affected by hyperammonemia and sodium benzoate treatment can correct the energy metabolism abnormalities
- 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
- mitochondrial NADH/NAD+ ratios are lower than in controls while cytosolic NADH/NAD+ is higher in the brain and liver
- increase in ammonia, alpha-ketoglutarate, and lactate levels and decrease in ATP and pyruvate levels in the liver
- 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
- acetylcholine esterase activity is reduced by 28% in the thalamus but not other regions
- hepatic ornithine transcarbamylase activity is less than 10% of controls
- 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
- abnormal urine homeostasis (MGI Ref ID J:16786)
- 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
- increased circulating ammonia level (MGI Ref ID J:784)
- serum ammonia levels are increased by 58%
- mice develop hyperammonemia
- nervous system phenotype
- abnormal brain morphology (MGI Ref ID J:23195)
- brain ammonia levels are increased by 77%
- 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
- peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the brain
- abnormal cholinergic neuron morphology (MGI Ref ID J:23195)
- 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
- endocrine/exocrine gland phenotype
- abnormal testis morphology (MGI Ref ID J:21306)
- peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the testis
- liver/biliary system phenotype
- abnormal liver morphology (MGI Ref ID J:21306)
- peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the liver
- renal/urinary system phenotype
- abnormal kidney morphology (MGI Ref ID J:21306)
- peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the kidney
- abnormal urine homeostasis (MGI Ref ID J:16786)
- 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
- reproductive system phenotype
- abnormal testis morphology (MGI Ref ID J:21306)
- peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the testis
- behavior/neurological phenotype
- impaired passive avoidance behavior (MGI Ref ID J:31237)
- 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
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
| 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 | ||
| 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; MGC108742; MGC129967; MGC129968; MGC138856; 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] | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
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]
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]
Batshaw 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]
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]
Ratnakumari L; Qureshi IA; Maysinger D; Butterworth RF. 1995. Developmental deficiency of the cholinergic system in congenitally hyperammonemic spf mice: effect of acetyl-L-carnitine. J Pharmacol Exp Ther 274(1):437-43. [PubMed: 7616428] [MGI Ref ID J:28331]
Robinson MB; Anegawa NJ; Gorry E; Qureshi IA; Coyle JT; Lucki I; Batshaw ML. 1992. Brain serotonin2 and serotonin1A receptors are altered in the congenitally hyperammonemic sparse fur mouse. J Neurochem 58(3):1016-22. [PubMed: 1531355] [MGI Ref ID J:1966]
Seiler N; Grauffel C; Daune-Anglard G; Sarhan S; Knodgen B. 1994. Decreased hyperammonaemia and orotic aciduria due to inactivation of ornithine aminotransferase in mice with a hereditary abnormal ornithine carbamoyltransferase. J Inherit Metab Dis 17(6):691-703. [PubMed: 7707692] [MGI Ref ID J:23017]
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]
Vasudevan S; Qureshi IA; Mores L; Rao PM; Rajalakshmi S; Sarma DS. 1992. Abnormal hepatic nucleotide pools in sparse fur (spf) mutant mice deficient in ornithine transcarbamylase. Biochem Med Metab Biol 47(3):274-8. [PubMed: 1627360] [MGI Ref ID J:3633]
Veres G; Gibbs RA; Scherer SE; Caskey CT. 1987. The molecular basis of the sparse fur mouse mutation. Science 237(4813):415-7. [PubMed: 3603027] [MGI Ref ID J:8786]
Zahorsky-Reeves JL; Wilkinson JE. 2002. A transgenic mouse strain with antigen-specific T cells (RAG1KO/sf/OVA) demonstrates that the scurfy (sf) mutation causes a defect in T-cell tolerization. Comp Med 52(1):58-62. [PubMed: 11900414] [MGI Ref ID J:120225]
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]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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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.
Additional Supply Details
| Pricing for International shipping destinations |
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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.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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| Important Note | |
| Otcspf is incompletely recessive. Some heterozygous females display the mutant phenotype. | |
Payment Terms and Conditions
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
See Terms of Use tab for General Terms and Conditions
The Jackson Laboratory's Genotype Promise
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
Purchasing Information
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Orders & Technical Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
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Terms of Use
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Contact information
General inquiries
Contracts Administration
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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. 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.