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Former Names B6CBACa Aw-J/A-Er/J (Changed: 30-NOV-05 ) Type Mutant Strain; Spontaneous Mutation; Species laboratory mouse Generation N3F1N1
Strains carrying Aw-J allele
View Strains carrying Aw-J (31 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (138 strains)
Mammalian Phenotype Terms assigned by genotype
SfnEr/Sfn+
B6CBACa Aw-J/A-SfnEr/J
- skin/coat/nails phenotype
- premature hair loss (MGI Ref ID J:102931)
- repeated hair loss in adults
SfnEr/SfnEr
B6CBACa Aw-J/A-SfnEr/J
- lethality-prenatal/perinatal
- perinatal lethality (MGI Ref ID J:102931)
- die at birth due to respiratory stress
- respiratory system phenotype
- respiratory distress (MGI Ref ID J:102931)
- skin/coat/nails phenotype
- abnormal granular layer morphology (MGI Ref ID J:102931)
- the thickened epidermis lacks the stratum granulosum
- abnormal keratinocyte differentiation (MGI Ref ID J:102931)
- failure of keratinocyte terminal differentiation; epidermis cells do not differentiate into mature granular and cornified cells
- absent cornified layer (MGI Ref ID J:102931)
- the thickened epidermis lacks the stratum corneum
- epidermal hyperplasia (MGI Ref ID J:102931)
- shiny skin (MGI Ref ID J:102931)
- thickened epidermis (MGI Ref ID J:102931)
- craniofacial phenotype
- abnormal craniofacial development (MGI Ref ID J:102931)
- fusion of the epithelium of the oral cavity
- limbs/digits/tail phenotype
- short limbs (MGI Ref ID J:102931)
- stumpy legs
- short tail (MGI Ref ID J:102931)
- stumpy tail
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
SfnEr/Sfn+
either: (involves: 129/Sv * C57BL/6) or (involves: C57BL/6)
- lethality-postnatal
- lethality at weaning (MGI Ref ID J:6200)
- increased mortality starting at about the time hair loss starts and continuing through weaning and a little after
- mice surviving the post weaning period are fertile and live normal lifespans
- skin/coat/nails phenotype
- premature hair loss (MGI Ref ID J:6200)
- first coat lost by 3 weeks then quickly replaced and lost again
- hair loss begins around eyes and nose
- normal until around 13 days when hair loss begins
- sparse hair (MGI Ref ID J:29020)
- growth/size phenotype
- postnatal growth retardation (MGI Ref ID J:6200)
- starting about the same time as hair loss
SfnEr/Sfn+
involves: 129S/SvEv * C57BL/6By
- tumorigenesis
- skin papilloma (MGI Ref ID J:12025)
- 67% frequency in mice older than 6 months
- begin as small sessile or pedunculated papillomas, then most enlarge, and many develop horns
- no evidence of virus particles
- squamous cell carcinoma (MGI Ref ID J:12025)
- 67% frequency in mice older than 6 months
- squamous cell carcinomas in the fleshy base of large cutaneous horns
- no evidence of virus particles
- skin/coat/nails phenotype
- skin papilloma (MGI Ref ID J:12025)
- 67% frequency in mice older than 6 months
- begin as small sessile or pedunculated papillomas, then most enlarge, and many develop horns
- no evidence of virus particles
SfnEr/SfnEr
either: (involves: 129/Sv * C57BL/6) or (involves: C57BL/6)
- lethality-prenatal/perinatal
- neonatal lethality (MGI Ref ID J:6200)
- born alive
- die shortly after birth of acute respiratory distress due to a closed oral cavity
- respiratory system phenotype
- abnormal nose morphology (MGI Ref ID J:6200)
- oral cavity closed
- abnormal external nares morphology (MGI Ref ID J:6200)
- nostrils present only as two very small holes
- abnormal respiratory signs/symptoms (MGI Ref ID J:6200)
- respiratory distress (MGI Ref ID J:6200)
- acute respiratory distress is cause of death
- respiratory failure (MGI Ref ID J:6200)
- pups try to breath but cannot due to closed oral cavity
- skin/coat/nails phenotype
- abnormal epidermal layer morphology (MGI Ref ID J:6708)
- abnormal basal cell layer morphology (MGI Ref ID J:6200)
- stratum germinativum underdeveloped
- fewer desmosomes between basal layer cells
- abnormal cornified layer morphology (MGI Ref ID J:6708)
- cells less organized
- true cornified zone not seen
- abnormal granular layer morphology (MGI Ref ID J:6708)
- cells less organized
- increased number of granular cell layers
- decreased hair follicle number (MGI Ref ID J:6200)
- hair follicles very rare
- shiny skin (MGI Ref ID J:6200)
- thin skin (MGI Ref ID J:6200)
- extremely thin and smooth
- inconsistent thickness
- digestive/alimentary phenotype
- abnormal anus morphology (MGI Ref ID J:6200)
- anal orifice undetectable
- abnormal perineum morphology (MGI Ref ID J:6200)
- urogenital orifices undetectable
- cleft palate (MGI Ref ID J:6200)
- palatal shelves fail to fuse along midline
- herniated intestine (MGI Ref ID J:6200)
- 1-2 external loops of the bowel occasionally seen (Celosomia)
- liver/biliary system phenotype
- abnormal liver morphology (MGI Ref ID J:6200)
- sometimes partially protrudes from the body cavity
- craniofacial phenotype
- abnormal orofacial morphology (MGI Ref ID J:6200)
- abnormal mouth morphology (MGI Ref ID J:6200)
- closed
- complete fusion of premaxillary and lower jaw epithelia
- tongue fused to both premaxilla and mandible
- cleft palate (MGI Ref ID J:6200)
- palatal shelves fail to fuse along midline
- thin lip (MGI Ref ID J:6200)
- short snout (MGI Ref ID J:6200)
- truncated
- small ears (MGI Ref ID J:6200)
- pinna reduced in size
- limbs/digits/tail phenotype
- abnormal phalanx morphology (MGI Ref ID J:6200)
- phalanges sometimes fused (symphalangy)
- complete disappearance of distal phalangies sometimes
- brachyphalangia (MGI Ref ID J:6200)
- abnormal radius morphology (MGI Ref ID J:6200)
- radius held closer to humerus
- decreased caudal vertebrae number (MGI Ref ID J:6200)
- 10-12 caudal vertebrae missing
- short limbs (MGI Ref ID J:6200)
- limbs and tail greatly shortened
- skeleton phenotype
- abnormal axial skeleton morphology (MGI Ref ID J:6200)
- decreased caudal vertebrae number (MGI Ref ID J:6200)
- 10-12 caudal vertebrae missing
- kyphosis (MGI Ref ID J:6200)
- accentuated dorsal curvature and head shifted slightly forward along body axis
- abnormal phalanx morphology (MGI Ref ID J:6200)
- phalanges sometimes fused (symphalangy)
- complete disappearance of distal phalangies sometimes
- brachyphalangia (MGI Ref ID J:6200)
- abnormal radius morphology (MGI Ref ID J:6200)
- radius held closer to humerus
- reproductive system phenotype
- abnormal perineum morphology (MGI Ref ID J:6200)
- urogenital orifices undetectable
- hearing/vestibular/ear phenotype
- small ears (MGI Ref ID J:6200)
- pinna reduced in size
- vision/eye phenotype
- microphthalmia (MGI Ref ID J:6200)
Research Applications
This mouse can be used to support research in many areas including:SfnEr related
Dermatology Research
Skin and Hair Texture Defects
Developmental Biology Research
Craniofacial and Palate Defects (cleft palate)
Skeletal Defects
| Allele Symbol | Aw-J | ||
|---|---|---|---|
| Allele Name | white bellied agouti Jackson | ||
| Common Name(s) | AWJ; | ||
| Strain of Origin | C57BL/6J | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; MGC126092; MGC126093; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| Allele Symbol | SfnEr | ||
| Allele Name | repeated epilation | ||
| Common Name(s) | Er; | ||
| Gene Symbol and Name | Sfn, stratifin | ||
| Chromosome | 4 | ||
| Gene Common Name(s) | 14-3-3 sigma; Er; MME1; YWHAS; Ywhas; repeated epilation; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, sigma polypeptide; | ||
| General Note | Sfn is on Chr 4 close to pupoid fetus (pf), a mutant which SfnEr closely resembles. | ||
| Molecular Note | A single T insertion at base pair 622 causes a frame shift mutation at amino acid residue 207 truncating the C-terminus of the protein. This eliminates residues required for ligand interaction. Production of truncated protein was demonstrated immunologically. The hair-loss phenotype could be rescued using a Sfn containing transgene. [MGI Ref ID J:101891] | ||
Genotyping Protocols
Aw-J, STD PCR, vers. 1
Helpful Links
Optimizing PCR Protocols
Aw-J related
Aberg T; Wang XP; Kim JH; Yamashiro T; Bei M; Rice R; Ryoo HM; Thesleff I. 2004. Runx2 mediates FGF signaling from epithelium to mesenchyme during tooth morphogenesis. Dev Biol 270(1):76-93. [PubMed: 15136142] [MGI Ref ID J:92174]SfnEr relatedBarsh GS; Epstein CJ. 1989. Physical and genetic characterization of a 75-kilobase deletion associated with al, a recessive lethal allele at the mouse agouti locus. Genetics 121(4):811-8. [PubMed: 2566558] [MGI Ref ID J:9799]
Baurle J; Vogten H; Grusser-Cornehls U. 1998. Course and targets of the calbindin D-28k subpopulation of primary vestibular afferents. J Comp Neurol 402(1):111-28. [PubMed: 9831049] [MGI Ref ID J:118430]
Boran T; Lesot H; Peterka M; Peterkova R. 2005. Increased apoptosis during morphogenesis of the lower cheek teeth in tabby/EDA mice. J Dent Res 84(3):228-33. [PubMed: 15723861] [MGI Ref ID J:112546]
Cui CY; Hashimoto T; Grivennikov SI; Piao Y; Nedospasov SA; Schlessinger D. 2006. Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation. Proc Natl Acad Sci U S A 103(24):9142-7. [PubMed: 16738056] [MGI Ref ID J:111051]
Cui CY; Kunisada M; Esibizione D; Grivennikov SI; Piao Y; Nedospasov SA; Schlessinger D. 2007. Lymphotoxin-beta regulates periderm differentiation during embryonic skin development. Hum Mol Genet 16(21):2583-90. [PubMed: 17673451] [MGI Ref ID J:129949]
Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. [PubMed: 5798139] [MGI Ref ID J:30922]
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]
Granholm DE; Reese RN; Granholm NH. 1995. Agouti alleles influence thiol concentrations in hair follicles and extrafollicular tissues of mice (Ay/a, AwJ/AwJ, a/a). Pigment Cell Res 8(6):302-6. [PubMed: 8789738] [MGI Ref ID J:31403]
Jones JM; Huang JD; Mermall V; Hamilton BA; Mooseker MS; Escayg A; Copeland NG; Jenkins NA; Meisler MH. 2000. The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Hum Mol Genet 9(5):821-8. [PubMed: 10749990] [MGI Ref ID J:61324]
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]
Katoh A; Yoshida T; Himeshima Y; Mishina M; Hirano T. 2005. Defective control and adaptation of reflex eye movements in mutant mice deficient in either the glutamate receptor delta2 subunit or Purkinje cells. Eur J Neurosci 21(5):1315-26. [PubMed: 15813941] [MGI Ref ID J:101081]
Lee M; Kim A; Chua SC Jr; Obici S; Wardlaw SL. 2007. Transgenic MSH overexpression attenuates the metabolic effects of a high-fat diet. Am J Physiol Endocrinol Metab 293(1):E121-31. [PubMed: 17374695] [MGI Ref ID J:126508]
Lu W; Tsirka SE. 2002. Partial rescue of neural apoptosis in the Lurcher mutant mouse through elimination of tissue plasminogen activator. Development 129(8):2043-50. [PubMed: 11934869] [MGI Ref ID J:111363]
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]
Mitsumori K; Yasuhara K; Mori I; Hayashi S; Shimo T; Onodera H; Nomura T; Hayashi Y. 1998. Pulmonary fibrosis caused by N-methyl-N-nitrosourethane inhibits lung tumorigenesis by urethane in transgenic mice carrying the human prototype c-Ha-ras gene. Cancer Lett 129(2):181-90. [PubMed: 9719460] [MGI Ref ID J:52138]
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]
Mullen RJ. 1974. A<w-J> - white-bellied agouti-J Mouse News Lett 50:38. [MGI Ref ID J:64104]
Mustonen T; Ilmonen M; Pummila M; Kangas AT; Laurikkala J; Jaatinen R; Pispa J; Gaide O; Schneider P; Thesleff I; Mikkola ML. 2004. Ectodysplasin A1 promotes placodal cell fate during early morphogenesis of ectodermal appendages. Development 131(20):4907-19. [PubMed: 15371307] [MGI Ref ID J:128256]
O'donnell SM; Hansberger MW; Connolly JL; Chappell JD; Watson MJ; Pierce JM; Wetzel JD; Han W; Barton ES; Forrest JC; Valyi-Nagy T; Yull FE; Blackwell TS; Rottman JN; Sherry B; Dermody TS. 2005. Organ-specific roles for transcription factor NF-kappaB in reovirus-induced apoptosis and disease. J Clin Invest 115(9):2341-2350. [PubMed: 16100570] [MGI Ref ID J:100906]
Peng J; Wu Z; Wu Y; Hsu M; Stevenson FF; Boonplueang R; Roffler-Tarlov SK; Andersen JK. 2002. Inhibition of caspases protects cerebellar granule cells of the weaver mouse from apoptosis and improves behavioral phenotype. J Biol Chem 277(46):44285-91. [PubMed: 12221097] [MGI Ref ID J:119427]
Peng J; Xie L; Stevenson FF; Melov S; Di Monte DA; Andersen JK. 2006. Nigrostriatal dopaminergic neurodegeneration in the weaver mouse is mediated via neuroinflammation and alleviated by minocycline administration. J Neurosci 26(45):11644-51. [PubMed: 17093086] [MGI Ref ID J:114943]
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]
Probst FJ; Cooper ML; Cheung SW; Justice MJ. 2008. Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome. J Hered 99(5):512-7. [PubMed: 18499648] [MGI Ref ID J:138994]
Smith DE; Xu SG. 2003. Ultrastructural organization of GABA-like immunoreactive profiles in the weaver substantia nigra. J Neurocytol 32(3):293-303. [PubMed: 14724391] [MGI Ref ID J:121345]
Vandenput L; Swinnen JV; Boonen S; Van Herck E; Erben RG; Bouillon R; Vanderschueren D. 2004. Role of the androgen receptor in skeletal homeostasis: the androgen-resistant testicular feminized male mouse model. J Bone Miner Res 19(9):1462-70. [PubMed: 15312246] [MGI Ref ID J:111491]
Wu Q; Miller RH; Ransohoff RM; Robinson S; Bu J; Nishiyama A. 2000. Elevated levels of the chemokine GRO-1 correlate with elevated oligodendrocyte progenitor proliferation in the jimpy mutant. J Neurosci 20(7):2609-17. [PubMed: 10729341] [MGI Ref ID J:109469]
Yamago G; Takata Y; Furuta I; Urase K; Momoi T; Huh N. 2001. Suppression of hair follicle development inhibits induction of sonic hedgehog, patched, and patched-2 in hair germs in mice. Arch Dermatol Res 293(9):435-41. [PubMed: 11758785] [MGI Ref ID J:116953]
Yoshida T; Katoh A; Ohtsuki G; Mishina M; Hirano T. 2004. Oscillating Purkinje neuron activity causing involuntary eye movement in a mutant mouse deficient in the glutamate receptor delta2 subunit. J Neurosci 24(10):2440-8. [PubMed: 15014119] [MGI Ref ID J:97010]
van Empel VP; Bertrand AT; van der Nagel R; Kostin S; Doevendans PA; Crijns HJ; de Wit E; Sluiter W; Ackerman SL; De Windt LJ. 2005. Downregulation of apoptosis-inducing factor in harlequin mutant mice sensitizes the myocardium to oxidative stress-related cell death and pressure overload-induced decompensation. Circ Res 96(12):e92-e101. [PubMed: 15933268] [MGI Ref ID J:110278]
Fisher C. 2000. IKKalpha-/- mice share phenotype with pupoid fetus (pf/pf) and repeated epilation (Er/Er) mutant mice. Trends Genet 16(11):482-4. [PubMed: 11203384] [MGI Ref ID J:65526]Fisher C; Byers MR; Iadarola MJ; Powers EA. 1991. Patterns of epithelial expression of Fos protein suggest important role in the transition from viable to cornified cell during keratinization. Development 111(2):253-8. [PubMed: 1909952] [MGI Ref ID J:32257]
Guenet JL; Salzgeber B; Tassin MT. 1979. Repeated epilation: a genetic epidermal syndrome in mice. J Hered 70(2):90-4. [PubMed: 479550] [MGI Ref ID J:6200]
Herron BJ; Liddell RA; Parker A; Grant S; Kinne J; Fisher JK; Siracusa LD. 2005. A mutation in stratifin is responsible for the repeated epilation (Er) phenotype in mice. Nat Genet 37(11):1210-2. [PubMed: 16200063] [MGI Ref ID J:101891]
Holbrook KA; Dale BA; Brown KS. 1982. Abnormal epidermal keratinization in the repeated epilation mutant mouse. J Cell Biol 92(2):387-97. [PubMed: 6174530] [MGI Ref ID J:6708]
Hunsicker. 1960. Repeated epilation, Er Mouse News Lett 23:58-9. [MGI Ref ID J:29020]
Jones AH; Lehman P; Dale BA. 1992. Altered retinoid distribution in the repeated epilation (Er) mutant mouse. J Craniofac Genet Dev Biol 12(2):63-75. [PubMed: 1613075] [MGI Ref ID J:1467]
Li Q; Lu Q; Estepa G; Verma IM. 2005. Identification of 14-3-3sigma mutation causing cutaneous abnormality in repeated-epilation mutant mouse. Proc Natl Acad Sci U S A 102(44):15977-82. [PubMed: 16239341] [MGI Ref ID J:102931]
Lutzner MA; Guenet JL; Breitburd F. 1985. Multiple cutaneous papillomas and carcinomas that develop spontaneously in a mouse mutant, the repeated epilation heterozygote Er/+. J Natl Cancer Inst 75(1):161-6. [PubMed: 2989601] [MGI Ref ID J:12025]
Richardson RJ; Dixon J; Malhotra S; Hardman MJ; Knowles L; Boot-Handford RP; Shore P; Whitmarsh A; Dixon MJ. 2006. Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch. Nat Genet 38(11):1329-34. [PubMed: 17041603] [MGI Ref ID J:116077]
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]
Tassin MT; Salzgeber B; Guenet JL. 1983. Studies on repeated epilation mouse mutant embryos: I. Development of facial malformations. J Craniofac Genet Dev Biol 3(3):289-307. [PubMed: 6643653] [MGI Ref ID J:7243]
Currently there no information available for this strain. This may be due to the supply level of this strain.
*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $1900.00
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $2470.00
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
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