| 
| ||||||||||||||
- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
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
Former Names B6C3Fe-a/a-Glrbspa/+ (Changed: 15-DEC-04 ) Type Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F47pN1
Generation DefinitionsAppearance
black, tremors
Related Genotype: a/a Glrbspa/ Glrbspa
black, unaffected
Related Genotype: a/a +/? or a/a Glrbspa/+Description
Mice homozygous for the spastic spontaneous mutation (Glrbspa) can usually be recognized at 14 days of age, but some mutant mice may not be reliably distinguished until 5 or 6 weeks of age. They show spastic symptoms in response to handling, but spastic behavior can occur spontaneously. The spasms consist of rapid tremor, stiffness of posture, and difficulty in righting when placed on the back. No anatomical pathology occurs in either muscle or the central nervous system, except that herniated intervertebral discs and cysts of the leptomeninges occur, most severely in the lumbar region, possibly resulting from traumatic injuries sustained during the myoclonic episodes. The spastic symptoms can be markedly alleviated by intraperitoneal injection of aminooxyacetic acid, an inhibitor of g-aminobutyric acid transaminase (GABA-T), but not by Dilantin or trimethadione. Glycine receptor expression in the CNS of spastic mice is reduced to 20%, or less, of normal.Development
The spastic mutation (spa) arose spontaneously in the early 1960's at The Jackson Laboratory in a hybrid stock belonging to C. F. Chai that was produced by intercrosses of 6 inbred strains: C57BL/6J, C57BR/cd, A/J, BALB/c, LG and SM. This B6C3Fe-a/a stock of spastic was begun in 1973 by mating a B6.Cg-spa homozygous female at generation N5F5 to a C3H/Gn-a/a male and intercrossing the offspring. A homozygous female from the intercross was then crossed to a B6C3Fe-a/a F1 male and this stock was maintained through this cross-intercross using B6C3Fe-a/a F1 for the cross. In 1997 embryos were generated for cryopreservation by mating heterozygotes at generation N47.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Glrbspa allele
000066 B6.Cg-Glrbspa/J View Strains carrying Glrbspa (1 strain)
000066 B6.Cg-Glrbspa/J
Phenotype
Phenotype Information
Hyperekplexia, Hereditary - 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
Glrbspa/Glrb+
B6C3Fe a/a-Glrbspa/J
- reproductive system phenotype
- impaired acrosome reaction
- the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (MGI Ref ID J:107699)
- impaired fertilization
- in mutants, the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (MGI Ref ID J:107699)
Glrbspa/Glrbspa
B6C3Fe a/a-Glrbspa/J
- reproductive system phenotype
- impaired acrosome reaction
- the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (MGI Ref ID J:107699)
- impaired fertilization
- in mutants, the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (MGI Ref ID J:107699)
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Glrbspa/Glrbspa
Background Not Specified
- mortality/aging
- partial postnatal lethality
- percentage of mortality is high before or around weaning, although some can live almost a normal life span (MGI Ref ID J:13079)
- muscle phenotype
- muscle spasm
- sudden disturbance or handling causes spasms in which the back is stiff and arched, the legs are stiff and stretched, and the toes are extended (MGI Ref ID J:13079)
- when held by their tails, backs become stiff and bodies and legs quiver with a high frequency of vibration (MGI Ref ID J:13079)
- suffer from periods of spasticity which vary in length from one to several minutes; they walk in short steps, on tip-toe and arch their backs (MGI Ref ID J:5196)
- spasticity is induced by sudden handling (MGI Ref ID J:5196)
- mutants are recognizeable by 14 days of age (MGI Ref ID J:13079)
- behavior/neurological phenotype
- abnormal gait
- walk on tip-toe during a stimulus-induced spasm (MGI Ref ID J:13079)
- short stride length
- walk in short steps during a stimulus-induced spasm (MGI Ref ID J:13079)
- abnormal maternal nurturing
- females produce young but are poor mothers, possibly because of physical difficulties (MGI Ref ID J:13079)
- abnormal posture
- in severe cases of spasms, mutants are arch-backed and slide on the table (MGI Ref ID J:13079)
- hyperekplexia (MGI Ref ID J:33924)
- impaired righting response
- during a spasm, have great difficulty in turning over after being laid on the table with the belly facing upward (MGI Ref ID J:13079)
- impaired swimming
- lack facility in swimming (MGI Ref ID J:13079)
- increased startle reflex
- exhibit increased startle responses to acoustic stimuli of different intensities (MGI Ref ID J:33924)
- tremors
- when lifted up by the tail, backs stiffen and the entire body and legs quiver violently, indicating tremor (MGI Ref ID J:5196)
- reproductive system phenotype
- reduced male fertility
- frequency of litters from abnormal males is much lower (MGI Ref ID J:13079)
- skeleton phenotype
- abnormal vertebral column morphology
- vertebral column abnormalities, with the lumbar region most severely affected, that include intervertebral enchondrosis, hyperplasia of fibrocartilage, and intervertebral arthrosis, probably resulting from disc herniations and ossification (MGI Ref ID J:5196)
- as early as 24 days of age, exhibit formation of leptomeningeal cysts in the vertebral column, usually located medial to spinal nerve roots (MGI Ref ID J:5196)
- cysts are lined with a single or multiple layer of cuboidal epithelium and filled with a mucoid fluid and cellular debris and are located between the dura and the spinal cord (MGI Ref ID J:5196)
- the dorsal longitudinal ligament is thinner dorsally than medially (MGI Ref ID J:5196)
- in older mutants, the mucoid material ossifies and adheres to the spinal meninges (MGI Ref ID J:5196)
- fragile skeleton
- skeleton becomes brittle with increasing age (MGI Ref ID J:5196)
- nervous system phenotype
- abnormal Purkinje cell morphology
- occasionally Purkinje cells are lost (MGI Ref ID J:5196)
- abnormal brain dura mater morphology
- as cysts become distended with fluid, the dura is displaced laterally against the wall of the vertebral canal (MGI Ref ID J:5196)
- abnormal dorsal root ganglion morphology
- necrobiotic changes involve the neurons of the spinal ganglia with certain of these calcifying and many have eccentric nuclei (MGI Ref ID J:5196)
- abnormal spinal cord morphology
- abnormal spinal cord ventral horn morphology
- ventral horn neurons become flattened or stretched due to the compression of the spinal cord and undergo degenerative changes, such as shrinkage, vacuolation, and necrobiosis (MGI Ref ID J:5196)
- abnormal spinal nerve morphology
- cardiovascular system phenotype
- hemorrhage
- disk herniations cause hemorrhage (MGI Ref ID J:5196)
- endocrine/exocrine gland phenotype
- abnormal adrenal cortex morphology
- adrenal corticism is more evident in older mutants, beginning at about 2 months of age (MGI Ref ID J:5196)
- enlarged adrenal glands
- enlarged due to cortical hypertrophy and hyperplasia (MGI Ref ID J:5196)
- growth/size phenotype
- decreased body size (MGI Ref ID J:5196)
- homeostasis/metabolism phenotype
- edema
- disc herniations cause edema (MGI Ref ID J:5196)
This mouse can be used to support research in many areas including:Glrbspa related
Cell Biology Research
Channel and Transporter Defects
chloride
chloride: glycine receptor
Neurobiology Research
Channel and Transporter Defects
chloride
chloride: glycine receptor
Neurotransmitter Receptor and Synaptic Vesicle Defects
Receptor Defects
Tremor Defects
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Glrbspa | ||
|---|---|---|---|
| Allele Name | spastic | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | spa; | ||
| Gene Symbol and Name | Glrb, glycine receptor, beta subunit | ||
| Chromosome | 3 | ||
| Gene Common Name(s) | AI853901; expressed sequence AI853901; spa; spastic; | ||
| Molecular Note | The mutation in the spastic mouse is an insertion of a 7.1 kilobase LINE-1 element within intron 6 of the gene. Glrb mRNA is markedly reduced throughout brains of homozygous mice, and was shown to be aberrantly spliced. [MGI Ref ID J:18530] [MGI Ref ID J:21071] | ||
| 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
Kingsmore SF; Giros B; Suh D; Bieniarz M; Caron MG; Seldin MF. 1994. Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nat Genet 7(2):136-41. [PubMed: 7920630] [MGI Ref ID J:18530]
Glrbspa relateda relatedBecker CM; Schmieden V; Tarroni P; Strasser U; Betz H. 1992. Isoform-selective deficit of glycine receptors in the mouse mutant spastic. Neuron 8(2):283-9. [PubMed: 1371219] [MGI Ref ID J:1965]
Becker L; Hartenstein B; Schenkel J; Kuhse J; Betz H; Weiher H. 2000. Transient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease. Eur J Neurosci 12(1):27-32. [PubMed: 10651857] [MGI Ref ID J:60037]
CHAI CK; ROBERTS E; SIDMAN RL. 1962. Influence of aminooxyacetic acid, a gamma-aminobutyrate transaminase inhibitor, on hereditary spastic defect in the mouse. Proc Soc Exp Biol Med 109:491-5. [PubMed: 13877851] [MGI Ref ID J:13135]
Camp AJ; Lim R; Anderson WB; Schofield PR; Callister RJ; Brichta AM. 2010. Attenuated glycine receptor function reduces excitability of mouse medial vestibular nucleus neurons. Neuroscience 170(1):348-60. [PubMed: 20600650] [MGI Ref ID J:165211]
Chai CK. 1961. Hereditary spasticity in mice. J Hered 52:241-243. [MGI Ref ID J:13079]
Cosgrove AP; Graham HK. 1994. Botulinum toxin A prevents the development of contractures in the hereditary spastic mouse. Dev Med Child Neurol 36(5):379-85. [PubMed: 8168656] [MGI Ref ID J:19062]
Graham BA; Schofield PR; Sah P; Callister RJ. 2003. Altered inhibitory synaptic transmission in superficial dorsal horn neurones in spastic and oscillator mice. J Physiol 551(Pt 3):905-16. [PubMed: 12837931] [MGI Ref ID J:105485]
Graham BA; Schofield PR; Sah P; Margrie TW; Callister RJ. 2006. Distinct physiological mechanisms underlie altered glycinergic synaptic transmission in the murine mutants spastic, spasmodic, and oscillator. J Neurosci 26(18):4880-90. [PubMed: 16672662] [MGI Ref ID J:108318]
Handford CA; Lynch JW; Baker E; Webb GC; Ford JH; Sutherland GR; Schofield PR. 1996. The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes. Brain Res Mol Brain Res 35(1-2):211-9. [PubMed: 8717357] [MGI Ref ID J:31284]
Hartenstein B; Schenkel J; Kuhse J; Besenbeck B; Kling C; Becker CM; Betz H; Weiher H. 1996. Low level expression of glycine receptor beta subunit transgene is sufficient for phenotype correction in spastic mice. EMBO J 15(6):1275-82. [PubMed: 8635460] [MGI Ref ID J:32212]
Kingsmore SF; Giros B; Suh D; Bieniarz M; Caron MG; Seldin MF. 1994. Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nat Genet 7(2):136-41. [PubMed: 7920630] [MGI Ref ID J:18530]
Koch M; Kling C; Becker CM. 1996. Increased startle responses in mice carrying mutations of glycine receptor subunit genes. Neuroreport 7(3):806-8. [PubMed: 8733750] [MGI Ref ID J:33924]
Meier H; Chai CK. 1970. Spastic, an hereditary neurological mutation in the mouse characterized by vertebral arthropathy and leptomeningeal cyst formation. Exp Med Surg 28(1):24-38. [PubMed: 4323808] [MGI Ref ID J:5196]
Molon A; Di Giovanni S; Hathout Y; Natale J; Hoffman EP. 2006. Functional recovery of glycine receptors in spastic murine model of startle disease. Neurobiol Dis 21(2):291-304. [PubMed: 16182553] [MGI Ref ID J:105777]
Mulhardt C; Fischer M; Gass P; Simon-Chazottes D; Guenet JL; Kuhse J; Betz H; Becker CM. 1994. The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element. Neuron 13(4):1003-15. [PubMed: 7946325] [MGI Ref ID J:21071]
Muller E; Le Corronc H; Scain AL; Triller A; Legendre P. 2008. Despite GABAergic neurotransmission, GABAergic innervation does not compensate for the defect in glycine receptor postsynaptic aggregation in spastic mice. Eur J Neurosci 27(10):2529-41. [PubMed: 18445051] [MGI Ref ID J:136684]
Pinto LH; Grunert U; Studholme K; Yazulla S; Kirsch J; Becker CM. 1994. Glycine receptors in the retinas of normal and spastic mutant mice. Invest Ophthalmol Vis Sci 35(10):3633-9. [PubMed: 8088953] [MGI Ref ID J:21161]
Roberts E; Kuriyama K. 1968. Biochemical-physiological correlations in studies of the gamma-aminobutyric acid system. Brain Res 8(1):1-35. [PubMed: 4870412] [MGI Ref ID J:5069]
Sato Y; Son JH; Tucker RP; Meizel S. 2000. The zona pellucida-initiated acrosome reaction: defect due to mutations in the sperm glycine receptor/Cl(-) channel. Dev Biol 227(1):211-8. [PubMed: 11076688] [MGI Ref ID J:107699]
Shiang R; Ryan SG; Zhu YZ; Hahn AF; O'Connell P; Wasmuth JJ. 1993. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet 5(4):351-8. [PubMed: 8298642] [MGI Ref ID J:20117]
Simon ES. 1997. Phenotypic heterogeneity and disease course in three murine strains with mutations in genes encoding for alpha 1 and beta glycine receptor subunits. Mov Disord 12(2):221-8. [PubMed: 9087981] [MGI Ref ID J:41909]
Stone C; Pinto LH. 1992. Receptive field organization of retinal ganglion cells in the spastic mutant mouse. J Physiol 456:125-42. [PubMed: 1338094] [MGI Ref ID J:797]
White WF. 1985. The glycine receptor in the mutant mouse spastic (spa): strychnine binding characteristics and pharmacology. Brain Res 329(1-2):1-6. [PubMed: 2983837] [MGI Ref ID J:7776]
White WF; Heller AH. 1982. Glycine receptor alteration in the mutant mouse spastic. Nature 298(5875):655-7. [PubMed: 6285205] [MGI Ref ID J:6816]
Yazulla S; Studholme KM; Pinto LH. 1997. Differences in the retinal GABA system among control, spastic mutant and retinal degeneration mutant mice. Vision Res 37(24):3471-82. [PubMed: 9425524] [MGI Ref ID J:45280]
von Wegerer J; Becker K; Glockenhammer D; Becker CM; Zeilhofer HU; Swandulla D. 2003. Spinal inhibitory synaptic transmission in the glycine receptor mouse mutant spastic. Neurosci Lett 345(1):45-8. [PubMed: 12809985] [MGI Ref ID J:107528]
Baba K; Sakakibara S; Setsu T; Terashima T. 2007. The superficial layers of the superior colliculus are cytoarchitectually and myeloarchitectually disorganized in the reelin-deficient mouse, reeler. Brain Res 1140:205-15. [PubMed: 17173877] [MGI Ref ID J:120267]
Batchelor AL; Phillips RJ; Searle AG. 1966. A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res 3(3):218-29. [PubMed: 5962396] [MGI Ref ID J:5021]
Bjorbaek C; Elmquist JK; Frantz JD; Shoelson SE; Flier JS. 1998. Identification of SOCS-3 as a potential mediator of central leptin resistance. Mol Cell 1(4):619-25. [PubMed: 9660946] [MGI Ref ID J:119803]
Bultman SJ; Klebig ML; Michaud EJ; Sweet HO; Davisson MT; Woychik RP. 1994. Molecular analysis of reverse mutations from nonagouti (a) to black-and-tan (a(t)) and white-bellied agouti (Aw) reveals alternative forms of agouti transcripts. Genes Dev 8(4):481-90. [PubMed: 8125260] [MGI Ref ID J:16984]
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]
Bultman SJ; Russell LB; Gutierrez-Espeleta GA; Woychik RP. 1991. Molecular characterization of a region of DNA associated with mutations at the agouti locus in the mouse. Proc Natl Acad Sci U S A 88(18):8062-6. [PubMed: 1896452] [MGI Ref ID J:16567]
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]
Butler AE; Janson J; Soeller WC; Butler PC. 2003. Increased beta-cell apoptosis prevents adaptive increase in beta-cell mass in mouse model of type 2 diabetes: evidence for role of islet amyloid formation rather than direct action of amyloid. Diabetes 52(9):2304-14. [PubMed: 12941770] [MGI Ref ID J:132530]
Cattanach BM. 1961. A chemically-induced variegated-type position effect in the mouse. Z Vererbungsl 92:165-82. [PubMed: 13877379] [MGI Ref ID J:160128]
Cropley JE; Suter CM; Beckman KB; Martin DI. 2006. Germ-line epigenetic modification of the murine A vy allele by nutritional supplementation. Proc Natl Acad Sci U S A 103(46):17308-12. [PubMed: 17101998] [MGI Ref ID J:117156]
De Souza J; Butler AA; Cone RD. 2000. Disproportionate inhibition of feeding in A(y) mice by certain stressors: a cautionary note. Neuroendocrinology 72(2):126-32. [PubMed: 10971147] [MGI Ref ID J:102986]
Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. [PubMed: 5798139] [MGI Ref ID J:30922]
Duchesnes CE; Naggert JK; Tatnell MA; Beckman N; Marnane RN; Rodrigues JA; Halim A; Pontre B; Stewart AW; Wolff GL; Elliott R; Mountjoy KG. 2009. New Zealand Ginger Mouse: Novel model that associates the tyrp1b pigmentation gene locus with regulation of lean body mass. Physiol Genomics 37(3):164-74. [PubMed: 19293329] [MGI Ref ID J:146052]
Dunn LC. 1928. A Fifth Allelomorph in the Agouti Series of the House Mouse. Proc Natl Acad Sci U S A 14(10):816-9. [PubMed: 16587414] [MGI Ref ID J:15011]
Dunn LC; Macdowell EC; Lebedeff GA. 1937. Studies on Spotting Patterns III. Interaction between Genes Affecting White Spotting and Those Affecting Color in the House Mouse. Genetics 22(2):307-18. [PubMed: 17246842] [MGI Ref ID J:12954]
Enshell-Seijffers D; Lindon C; Morgan BA. 2008. The serine protease Corin is a novel modifier of the Agouti pathway. Development 135(2):217-25. [PubMed: 18057101] [MGI Ref ID J:130426]
Feuerer M; Herrero L; Cipolletta D; Naaz A; Wong J; Nayer A; Lee J; Goldfine AB; Benoist C; Shoelson S; Mathis D. 2009. Lean, but not obese, fat is enriched for a unique population of regulatory T cells that affect metabolic parameters. Nat Med 15(8):930-9. [PubMed: 19633656] [MGI Ref ID J:152186]
Fujimoto W; Shiuchi T; Miki T; Minokoshi Y; Takahashi Y; Takeuchi A; Kimura K; Saito M; Iwanaga T; Seino S. 2007. Dmbx1 is essential in agouti-related protein action. Proc Natl Acad Sci U S A 104(39):15514-9. [PubMed: 17873059] [MGI Ref ID J:125193]
Gajewska M; Krysiak E; Wirth-Dziecialowska E. 2010. New coat color mutation mapped in distal part MMU10 MGI Direct Data Submission :. [MGI Ref ID J:162146]
Galbraith DB; Arceci RJ. 1974. Melanocyte populations of yellow and black hair bulbs in the mouse. J Hered 65(6):381-2. [PubMed: 4448905] [MGI Ref ID J:5512]
Galbraith DB; Patrignani AM. 1976. Sulfhydryl compounds in melanocytes of yellow (Ay/a), nonagouti (a/a), and agouti (A/A) mice. Genetics 84(3):587-91. [PubMed: 1001879] [MGI Ref ID J:5737]
Galbraith DB; Wolff GL; Brewer NL. 1980. Hair pigment patterns in different integumental environments of the mouse. Influence of the agouti suppressor (A<s>) mutation on expression of agouti locus alleles. J Hered 71:229-234. [MGI Ref ID J:12033]
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]
Geschwind II; Huseby RA; Nishioka R. 1972. The effect of melanocyte-stimulating hormone on coat color in the mouse. Recent Prog Horm Res 28:91-130. [PubMed: 4631622] [MGI Ref ID J:5324]
Granholm DE; Reese RN; Granholm NH. 1996. Agouti alleles alter cysteine and glutathione concentrations in hair follicles and serum of mice (A y/a, A wJ/A wJ, and a/a). J Invest Dermatol 106(3):559-63. [PubMed: 8648194] [MGI Ref ID J:32132]
Gruneberg H. 1952. . In: The Genetics of the Mouse. Martinus Nijhoff, The Hague. [MGI Ref ID J:30758]
Heaney JD; Michelson MV; Youngren KK; Lam MY; Nadeau JH. 2009. Deletion of eIF2beta suppresses testicular cancer incidence and causes recessive lethality in agouti-yellow mice. Hum Mol Genet 18(8):1395-404. [PubMed: 19168544] [MGI Ref ID J:146879]
Hearing VJ; Phillips P; Lutzner MA. 1973. The fine structure of melanogenesis in coat color mutants of the mouse. J Ultrastruct Res 43(1):88-106. [PubMed: 4634048] [MGI Ref ID J:5346]
Hustad CM; Perry WL; Siracusa LD; Rasberry C; Cobb L; Cattanach BM; Kovatch R; Copeland NG; Jenkins NA. 1995. Molecular genetic characterization of six recessive viable alleles of the mouse agouti locus. Genetics 140(1):255-65. [PubMed: 7635290] [MGI Ref ID J:24934]
Iwatsuka H; Shino A; Suzuoki Z. 1970. General survey of diabetic features of yellow KK mice. Endocrinol Jpn 17(1):23-35. [PubMed: 5468422] [MGI Ref ID J:26460]
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]
Kaminen-Ahola N; Ahola A; Maga M; Mallitt KA; Fahey P; Cox TC; Whitelaw E; Chong S. 2010. Maternal ethanol consumption alters the epigenotype and the phenotype of offspring in a mouse model. PLoS Genet 6(1):e1000811. [PubMed: 20084100] [MGI Ref ID J:156866]
Kappenman KE; Dvoracek MA; Harvison GA; Fuller BB; Granholm NH. 1992. Tyrosinase abundance and activity in murine hairbulb melanocytes of agouti mutants (C57BL/6J-a/a, Ay/a, and AwJ/AwJ). Pigment Cell Res Suppl 2:79-83. [PubMed: 1409442] [MGI Ref ID J:1295]
Knisely AS; Gasser DL; Silvers WK. 1975. Expression in organ culture of agouti locus genes of the mouse. Genetics 79(3):471-5. [PubMed: 1126628] [MGI Ref ID J:5533]
Lamoreux ML; Wakamatsu K; Ito S. 2001. Interaction of major coat color gene functions in mice as studied by chemical analysis of eumelanin and pheomelanin. Pigment Cell Res 14(1):23-31. [PubMed: 11277491] [MGI Ref ID J:103803]
Lane PW. 1989. Mottled agouti-J (am-J) Mouse News Lett 84:89. [MGI Ref ID J:16570]
Leamy LJ; Hrubant HE. 1971. Effects of alleles at the agouti locus on odontometric traits in the C57BL-6 strain of house mice. Genetics 67(1):87-96. [PubMed: 5556294] [MGI Ref ID J:16571]
Loosli R. 1963. Tanoid--a new agouti mutant in the mouse. J Hered 54:26-29. [MGI Ref ID J:13082]
Markert CL; Silvers WK. 1956. The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics 41(3):429-50. [PubMed: 17247639] [MGI Ref ID J:12970]
Martin NM; Houston PA; Patterson M; Sajedi A; Carmignac DF; Ghatei MA; Bloom SR; Small CJ. 2006. Abnormalities of the somatotrophic axis in the obese agouti mouse. Int J Obes (Lond) 30(3):430-8. [PubMed: 16172617] [MGI Ref ID J:151302]
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]
Mayer TC; Fishbane JL. 1972. Mesoderm-ectoderm interaction in the production of the agouti pigmentation pattern in mice. Genetics 71(2):297-303. [PubMed: 4558326] [MGI Ref ID J:5288]
Miller MW; Duhl DM; Vrieling H; Cordes SP; Ollmann MM; Winkes BM; Barsh GS. 1993. Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation. Genes Dev 7(3):454-67. [PubMed: 8449404] [MGI Ref ID J:4186]
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]
Monroe DG; Wipf LP; Diggins MR; Matthees DP; Granholm NH. 1998. Agouti-related maturation and tissue distribution of alpha-Melanocyte Stimulating Hormone in wild-type (AwJ/AwJ) and mutant (Ay/a,a/a) mice. Pigment Cell Res 11(5):310-3. [PubMed: 9877102] [MGI Ref ID J:52183]
Moyer FH. 1966. Genetic variations in the fine structure and ontogeny of mouse melanin granules. Am Zool 6(1):43-66. [PubMed: 5902512] [MGI Ref ID J:5001]
Nuotio-Antar AM; Hachey DL; Hasty AH. 2007. Carbenoxolone treatment attenuates symptoms of metabolic syndrome and atherogenesis in obese, hyperlipidemic mice. Am J Physiol Endocrinol Metab 293(6):E1517-28. [PubMed: 17878220] [MGI Ref ID J:145108]
Pettitt SJ; Liang Q; Rairdan XY; Moran JL; Prosser HM; Beier DR; Lloyd KC; Bradley A; Skarnes WC. 2009. Agouti C57BL/6N embryonic stem cells for mouse genetic resources. Nat Methods :. [PubMed: 19525957] [MGI Ref ID J:149352]
Poole TW. 1975. Dermal-epidermal interactions and the action of alleles at the agouti locus in the mouse. Dev Biol 42(2):203-10. [PubMed: 1090472] [MGI Ref ID J:5519]
Poole TW. 1982. The agouti suppressor (As) coat color mutation in mice: developmental effects on the expression of agouti locus alleles. J Exp Zool 220(1):57-64. [PubMed: 7077265] [MGI Ref ID J:6763]
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]
Quevedo WC Jr; Holstein TJ. 1992. The shift from physiological genetics to molecular genetics in the study of mouse tyrosinase. Pigment Cell Res Suppl 2:57-60. [PubMed: 1409439] [MGI Ref ID J:3852]
RUSSELL ES. 1949. A quantitative histological study of the pigment found in the coat-color mutants of the house mouse; interdependence among the variable granule attributes. Genetics 34(2):133-45. [PubMed: 18117146] [MGI Ref ID J:148461]
Rakyan VK; Chong S; Champ ME; Cuthbert PC; Morgan HD; Luu KV; Whitelaw E. 2003. Transgenerational inheritance of epigenetic states at the murine Axin(Fu) allele occurs after maternal and paternal transmission. Proc Natl Acad Sci U S A 100(5):2538-43. [PubMed: 12601169] [MGI Ref ID J:82396]
Russell ES. 1948. A Quantitative Histological Study of the Pigment Found in the Coat Color Mutants of the House Mouse. II. Estimates of the Total Volume of Pigment. Genetics 33(3):228-36. [PubMed: 17247280] [MGI Ref ID J:148462]
Russell ES. 1946. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. I. Variable Attributes of the Pigment Granules. Genetics 31(3):327-46. [PubMed: 17247200] [MGI Ref ID J:148463]
Russell ES. 1949. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. IV. the Nature of the Effects of Genic Substitution in Five Major Allelic Series. Genetics 34(2):146-66. [PubMed: 17247308] [MGI Ref ID J:12958]
Russell LB. 1964. Genetic and Functional Mosaicism in the Mouse. In: The Role of the Chromosomes in Development. Academic Press, New York. [MGI Ref ID J:29504]
Russell LB; Cupp McDaniel MN; Woodiel FN,. 1963. Crossing over within the a "locus" of the mouse Genetics 48:907 Abstr. [MGI Ref ID J:174047]
SILVERS WK. 1958. An experimental approach to action of genes at the agouti locus in the mouse. III. Transplants of newborn Aw-, A-and at-skin to Ay-, Aw-, A-and aa hosts. J Exp Zool 137(1):189-96. [PubMed: 13563791] [MGI Ref ID J:13013]
Sakurai T; Ochiai H; Takeuchi T. 1975. Ultrastructural change of melanosomes associated with agouti pattern formation in mouse hair. Dev Biol 47(2):466-71. [PubMed: 1204945] [MGI Ref ID J:5606]
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]
Soeller WC; Janson J; Hart SE; Parker JC; Carty MD; Stevenson RW; Kreutter DK; Butler PC. 1998. Islet amyloid-associated diabetes in obese A(vy)/a mice expressing human islet amyloid polypeptide. Diabetes 47(5):743-50. [PubMed: 9588445] [MGI Ref ID J:133694]
Suto J. 2008. Coincidence of loci for glucosuria and obesity in type 2 diabetes-prone KK-Ay mice. Med Sci Monit 14(2):CR65-74. [PubMed: 18227763] [MGI Ref ID J:131439]
Suto J. 2009. Identification of multiple quantitative trait loci affecting the size and shape of the mandible in mice. Mamm Genome 20(1):1-13. [PubMed: 19067046] [MGI Ref ID J:143893]
Suto J; Matsuura S; Imamura K; Yamanaka H; Sekikawa K. 1998. Genetics of obesity in KK mouse and effects of A(y) allele on quantitative regulation. Mamm Genome 9(7):506-10. [PubMed: 9657845] [MGI Ref ID J:48704]
Suwa A; Yoshino M; Yamazaki C; Naitou M; Fujikawa R; Matsumoto S; Kurama T; Shimokawa T; Aramori I. 2010. RMI1 deficiency in mice protects from diet and genetic-induced obesity. FEBS J 277(3):677-86. [PubMed: 20050919] [MGI Ref ID J:168271]
Tamate HB; Takeuchi T. 1981. Induction of the shift in melanin synthesis in lethal yellow (A<y>/a) mice in vitro. Dev Genet 2:349-356. [MGI Ref ID J:11956]
Tanaka S; Kuwahara S; Nishijima K; Ohno T; Matsuzawa A. 2006. Genetic association of mutation at agouti locus with adrenal x zone morphology in BALB/c mice. Exp Anim 55(4):343-7. [PubMed: 16880681] [MGI Ref ID J:111619]
Tanaka S; Nishimura M; Matsuzawa A. 1994. Genetic association between agouti locus and adrenal X zone morphology in SM/J mice. Acta Anat (Basel) 149(3):170-3. [PubMed: 7976166] [MGI Ref ID J:19308]
The Mammalian Genetics Unit at Harwell. 2004. Information obtained from the Mammalian Genetics Unit, Medical Research Council (MRC), Harwell, UK Unpublished :. [MGI Ref ID J:90559]
Tsuruta Y; Yoshimatsu H; Hidaka S; Kondou S; Okamoto K; Sakata T. 2002. Hyperleptinemia in A(y)/a mice upregulates arcuate cocaine- and amphetamine-regulated transcript expression. Am J Physiol Endocrinol Metab 282(4):E967-73. [PubMed: 11882520] [MGI Ref ID J:75872]
Vrieling H; Duhl DM; Millar SE; Miller KA; Barsh GS. 1994. Differences in dorsal and ventral pigmentation result from regional expression of the mouse agouti gene. Proc Natl Acad Sci U S A 91(12):5667-71. [PubMed: 8202545] [MGI Ref ID J:18750]
Wolff GL. 1978. Influence of maternal phenotype on metabolic differentiation of agouti locus mutants in the mouse. Genetics 88(3):529-39. [PubMed: 640377] [MGI Ref ID J:5964]
Woychik RP; Generoso WM; Russell LB; Cain KT; Cacheiro NL; Bultman SJ; Selby PB; Dickinson ME; Hogan BL; Rutledge JC. 1990. Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci. Proc Natl Acad Sci U S A 87(7):2588-92. [PubMed: 2320577] [MGI Ref ID J:10399]
Wu Q; Howell MP; Cowley MA; Palmiter RD. 2008. Starvation after AgRP neuron ablation is independent of melanocortin signaling. Proc Natl Acad Sci U S A 105(7):2687-92. [PubMed: 18272480] [MGI Ref ID J:132184]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.
Purchasing information
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
|
 |
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
- 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).
| Pricing for International shipping destinations |
|
|
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).
|
|
|
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.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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 Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form
Terms of Use
Terms of Use
General Terms and Conditions
Contact information
General inquiriesContracts 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. 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.