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- Description
- Disease & phenotype
- Genes & alleles
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Description
Strain Information
Former Names B6CBACa Aw-J/A-Pdcd8Hq/J (Changed: 20-NOV-06 ) B6CBACa-Aw-J/A-Hq (Changed: 15-DEC-04 ) B6CBACa-Aw-J/A-Pdcd8Hq (Changed: 15-DEC-04 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation (N15F1p)+N28 (11-MAR-13)
Generation DefinitionsAppearance
white bellied agouti or agouti, balding, small, ataxic
Related Genotype: Aw-J/? or A/A, Aifm1Hq/Y male or Aifm1Hq/Aifm1Hq female
white bellied agouti or agouti, possible patchy fur
Related Genotype: Aw-J/? or A/A, Aifm1Hq/+ femaleDescription
Harlequin mice exhibit paucity of fur resulting in near baldness in hemizygous males and homozygous females. Heterozygous females have a patchy absence of hair that is not always obvious, since the degree of hair loss is notably less than 50%. Homozygotes and hemizygous males weigh less than heterozygous or wild type controls. Ataxia is noticeable by 5 months and progresses as the mice age. Initially the ataxia manifests itself as a side-to-side, unsteady gait with a lateral tremor visible at rest. A delayed cerebellar cortical atrophy has been characterized in these mutants, with an apoptotic loss of granule cells beginning at 4 months of age and a necrotic loss of Purkinje cells occurring subsequently. The granule cells re-enter the cell cycle, but the Purkinje cells do not, supporting the postulate that inappropriate cell cycle re-entry of terminally differentiated neurons can induce apoptosis. Cell loss is greater in the caudal lobules of the cerebellum and is extensive by 9 to 11 months of age. Retinal degeneration is found beginning with ganglion and amacrine cell loss in the ganglion cell layer at 3 months of age, and progresses with cell loss in the inner and outer nuclear layers and reduction of rod and cone ERG responses at 4 months of age. By 10 months, the rod and cone ERG responses are gone, and at 11 months of age there isapparent cell loss in all layers of the retina. No cerebellar or retinal abnormalities were found in heterozygous females. Catalase activity and expression and total glutathione levels are increased in the cerebella of mutant mice, but not in other brain regions, and lipid hydroperoxidases are increased in brain and heart tissue. Primary granule cell cultures, but not cortical cultures, from harlequin mice show increased sensitivity to peroxide. Hemizygous males, homozygous females and hemizygous females are all viable and fertile. (Barber 1971; Falconer and Isaacson 1972; Bronson et al., 1990; Klein et al., 2002.)
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Aw-J allele
View Strains carrying Aw-J (30 strains)
Additional Web Information
JAX® NOTES, Winter 2002; 488. Jackson Laboratory Scientist Identifies Gene Implicated in Oxidative Stress and Neurodegeneration.
Phenotype
Phenotype Information
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Combined Oxidative Phosphorylation Deficiency 6; COXPD6 (AIFM1)
Cowchock Syndrome; COWCK (AIFM1)
Skin/Hair/Eye Pigmentation, Variation In, 9; SHEP9 (ASIP)
assigned by genotype
Aifm1Hq/Aifm1+
B6CBACa-Aw-J/A
- behavior/neurological phenotype
- *normal* behavior/neurological phenotype
- heterozygotes are normal with respect to ataxia (MGI Ref ID J:79052)
- nervous system phenotype
- *normal* nervous system phenotype
- no loss of granule cells seen to 26 months of age (MGI Ref ID J:79052)
- integument phenotype
- sparse hair
- patchy irregular hair loss (MGI Ref ID J:79052)
Aifm1Hq/Aifm1Hq
B6CBACa-Aw-J/A
- mortality/aging
- increased sensitivity to induced morbidity/mortality
- significantly reduced survival at both 1 and 4 weeks after transverse aortic banding (MGI Ref ID J:110278)
- behavior/neurological phenotype
- abnormal motor capabilities/coordination/movement (MGI Ref ID J:79052)
- abnormal gait
- ataxia
- tremors
- abnormal seizure response to pharmacological agent
- mice are protected against CA3 region damage at both 4 and 7 days after kainic acid induced stage 4 seizures although some cell damage is observed (MGI Ref ID J:98103)
- nervous system phenotype
- abnormal cerebellar cortex morphology (MGI Ref ID J:78983)
- Purkinje cell degeneration
- described as mild and patchy in the folia, but extensive in the floccular lobes in mice 5-8 months of age (MGI Ref ID J:79052)
- Purkinje cell loss occurs later than granule cell loss (MGI Ref ID J:78983)
- cell loss apparently due to necrosis (MGI Ref ID J:78983)
- many Purkinje cells are dead by 7 months of age (MGI Ref ID J:78983)
- abnormal cerebellar granule layer
- abnormal seizure response to pharmacological agent
- mice are protected against CA3 region damage at both 4 and 7 days after kainic acid induced stage 4 seizures although some cell damage is observed (MGI Ref ID J:98103)
- amacrine cell degeneration
- cell loss is seen in the ganglion layer after about 3 months of age (MGI Ref ID J:78983)
- decreased susceptibility to neuronal excitotoxicity
- resistant to cell death induced by glutamate, NMDA, and kainic acid (MGI Ref ID J:98103)
- retinal ganglion cell degeneration
- ganglion cell loss is seen after about 3 months of age (MGI Ref ID J:78983)
- small cerebellum
- vision/eye phenotype
- abnormal eye electrophysiology
- amacrine cell degeneration
- cell loss is seen in the ganglion layer after about 3 months of age (MGI Ref ID J:78983)
- retinal degeneration
- retinal ganglion cell degeneration
- ganglion cell loss is seen after about 3 months of age (MGI Ref ID J:78983)
- thin retinal inner plexiform layer
- thinning by 11 months (MGI Ref ID J:78983)
- thin retinal outer plexiform layer
- thinning by 11 months (MGI Ref ID J:78983)
- cellular phenotype
- abnormal cell cycle
- decreased susceptibility to neuronal excitotoxicity
- resistant to cell death induced by glutamate, NMDA, and kainic acid (MGI Ref ID J:98103)
- increased cardiomyocyte apoptosis
- greatly increased levels of both apoptosis and necrosis in myocytes after transverse aortic banding (MGI Ref ID J:110278)
- increased cellular sensitivity to hydrogen peroxide
- granule cells of the cerebellum in culture show increased sensitivity to hydrogen peroxide (MGI Ref ID J:78983)
- oxidative stress
- cardiovascular system phenotype
- abnormal cardiovascular system morphology (MGI Ref ID J:110278)
- abnormal cardiovascular system physiology (MGI Ref ID J:110278)
- abnormal myocardial fiber physiology
- cardiomyocytes more prone to die in response to exposure to hydrogen peroxide (MGI Ref ID J:110278)
- increased cardiomyocyte apoptosis
- greatly increased levels of both apoptosis and necrosis in myocytes after transverse aortic banding (MGI Ref ID J:110278)
- altered response to myocardial infarction
- decreased cardiac muscle contractility
- deterioration of cardiac contractility as a result of transverse aortic banding (MGI Ref ID J:110278)
- muscle phenotype
- decreased cardiac muscle contractility
- deterioration of cardiac contractility as a result of transverse aortic banding (MGI Ref ID J:110278)
- increased cardiomyocyte apoptosis
- greatly increased levels of both apoptosis and necrosis in myocytes after transverse aortic banding (MGI Ref ID J:110278)
- homeostasis/metabolism phenotype
- altered response to myocardial infarction
- decreased susceptibility to neuronal excitotoxicity
- resistant to cell death induced by glutamate, NMDA, and kainic acid (MGI Ref ID J:98103)
- increased catalase activity
- catalase activity increased in the cerebellum at 1 and 3 months of age (MGI Ref ID J:78983)
- integument phenotype
- sparse hair
- described as nearly bald (MGI Ref ID J:79052)
Aifm1Hq/Y
B6CBACa-Aw-J/A
- mortality/aging
- increased sensitivity to induced morbidity/mortality
- significantly reduced survival at both 1 and 4 weeks after transverse aortic banding (MGI Ref ID J:110278)
- behavior/neurological phenotype
- abnormal motor capabilities/coordination/movement (MGI Ref ID J:79052)
- abnormal gait
- ataxia
- tremors
- abnormal seizure response to pharmacological agent
- mice are protected against CA3 region damage at both 4 and 7 days after kainic acid induced stage 4 seizures although some cell damage is observed (MGI Ref ID J:98103)
- nervous system phenotype
- abnormal cerebellar cortex morphology (MGI Ref ID J:78983)
- Purkinje cell degeneration
- Purkinje cell loss occurs later than granule cell loss (MGI Ref ID J:78983)
- cell loss apparently due to necrosis (MGI Ref ID J:78983)
- many Purkinje cells are dead by 7 months of age (MGI Ref ID J:78983)
- described as mild and patchy in the folia, but extensive in the floccular lobes in mice 5-8 months of age (MGI Ref ID J:79052)
- abnormal cerebellar granule layer
- abnormal seizure response to pharmacological agent
- mice are protected against CA3 region damage at both 4 and 7 days after kainic acid induced stage 4 seizures although some cell damage is observed (MGI Ref ID J:98103)
- amacrine cell degeneration
- cell loss is seen in the ganglion layer after 3 months of age (MGI Ref ID J:78983)
- decreased susceptibility to neuronal excitotoxicity
- resistant to cell death induced by glutamate, NMDA, and kainic acid (MGI Ref ID J:98103)
- retinal ganglion cell degeneration
- ganglion cell loss is seen after about 3 months of age (MGI Ref ID J:78983)
- small cerebellum
- vision/eye phenotype
- abnormal eye electrophysiology
- amacrine cell degeneration
- cell loss is seen in the ganglion layer after 3 months of age (MGI Ref ID J:78983)
- retinal degeneration
- retinal ganglion cell degeneration
- ganglion cell loss is seen after about 3 months of age (MGI Ref ID J:78983)
- thin retinal inner plexiform layer
- thinning by 11 months (MGI Ref ID J:78983)
- thin retinal outer plexiform layer
- thinning by 11 months (MGI Ref ID J:78983)
- cellular phenotype
- abnormal cell cycle
- decreased susceptibility to neuronal excitotoxicity
- resistant to cell death induced by glutamate, NMDA, and kainic acid (MGI Ref ID J:98103)
- increased cardiomyocyte apoptosis
- greatly increased levels of both apoptosis and necrosis in myocytes after transverse aortic banding (MGI Ref ID J:110278)
- increased cellular sensitivity to hydrogen peroxide
- granule cells of the cerebellum in culture show increased sensitivity to hydrogen peroxide (MGI Ref ID J:78983)
- oxidative stress
- cardiovascular system phenotype
- abnormal cardiovascular system morphology (MGI Ref ID J:110278)
- abnormal cardiovascular system physiology (MGI Ref ID J:110278)
- abnormal myocardial fiber physiology
- cardiomyocytes more prone to die in response to exposure to hydrogen peroxide (MGI Ref ID J:110278)
- increased cardiomyocyte apoptosis
- greatly increased levels of both apoptosis and necrosis in myocytes after transverse aortic banding (MGI Ref ID J:110278)
- altered response to myocardial infarction
- decreased cardiac muscle contractility
- deterioration of cardiac contractility as a result of transverse aortic banding (MGI Ref ID J:110278)
- muscle phenotype
- decreased cardiac muscle contractility
- deterioration of cardiac contractility as a result of transverse aortic banding (MGI Ref ID J:110278)
- increased cardiomyocyte apoptosis
- greatly increased levels of both apoptosis and necrosis in myocytes after transverse aortic banding (MGI Ref ID J:110278)
- homeostasis/metabolism phenotype
- altered response to myocardial infarction
- decreased susceptibility to neuronal excitotoxicity
- resistant to cell death induced by glutamate, NMDA, and kainic acid (MGI Ref ID J:98103)
- increased catalase activity
- catalase activity increased in the cerebellum at 1 and 3 months of age (MGI Ref ID J:78983)
- integument phenotype
- sparse hair
- described as nearly bald (MGI Ref ID J:79052)
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Aifm1Hq/Aifm1Hq
involves: CF-1
- growth/size phenotype
- decreased body weight
- adults are about 1/3 the weight of controls (MGI Ref ID J:15073)
- integument phenotype
- focal hair loss
- mice have bald patches of varying extent and distribution (MGI Ref ID J:15073)
Aifm1Hq/Y
involves: CF-1This mouse can be used to support research in many areas including:Aifm1Hq related
Apoptosis Research
Endogenous Regulators
Cell Biology Research
Cell Cycle Regulation
Dermatology Research
Skin and Hair Texture Defects
Developmental Biology Research
Eye Defects
Growth Defects
Neurobiology Research
Cerebellar Defects
Purkinje cell defect
Neurodegeneration
Tremor Defects
Sensorineural Research
Eye Defects
Retinal Degeneration
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Aw-J | ||
|---|---|---|---|
| Allele Name | white bellied agouti Jackson | ||
| Allele Type | Spontaneous | ||
| 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; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| Allele Symbol | Aifm1Hq | ||
| Allele Name | harlequin | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Hq; Pcdc8hq; | ||
| Strain of Origin | CF-1 | ||
| Gene Symbol and Name | Aifm1, apoptosis-inducing factor, mitochondrion-associated 1 | ||
| Chromosome | X | ||
| Gene Common Name(s) | AIF; AIFsh2; CMTX4; COWCK; COXPD6; Hq; PDCD8; Pdcd8; apoptosis-inducing factor; harlequin; programmed cell death 8; | ||
| General Note | Although initial reports indicated that ataxia was more severe in males than females, later unpublished reports indicate that there is no significant difference in severity of the ataxia phenotype between hemizygous males and homozygous females (S. Ackerman, personal communication) | ||
| Molecular Note | The harlequin mutation is an ecotropic proviral insertion at the Pdcd8 gene. This insertion leads to an 80% decrease in transcipt and protein levels, relative to wild-type controls. [MGI Ref ID J:78983] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Aifm1Hq, Separated PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Klein JA; Longo-Guess CM; Rossmann MP; Seburn KL; Hurd RE; Frankel WN; Bronson RT; Ackerman SL. 2002. The harlequin mouse mutation downregulates apoptosis-inducing factor. Nature 419(6905):367-74. [PubMed: 12353028] [MGI Ref ID J:78983]
Additional References
Cregan SP; Fortin A; MacLaurin JG; Callaghan SM; Cecconi F; Yu SW; Dawson TM; Dawson VL; Park DS; Kroemer G; Slack RS. 2002. Apoptosis-inducing factor is involved in the regulation of caspase-independent neuronal cell death. J Cell Biol 158(3):507-17. [PubMed: 12147675] [MGI Ref ID J:78264]
Daugas E; Nochy D; Ravagnan L; Loeffler M; Susin SA; Zamzami N; Kroemer G. 2000. Apoptosis-inducing factor (AIF): a ubiquitous mitochondrial oxidoreductase involved in apoptosis FEBS Lett 476(3):118-23. [PubMed: 10913597] [MGI Ref ID J:63402]
Joza N; Susin SA; Daugas E; Stanford WL; Cho SK; Li CY; Sasaki T; Elia AJ; Cheng HY; Ravagnan L; Ferri KF; Zamzami N; Wakeham A; Hakem R; Yoshida H; Kong YY; Mak TW; Zuniga-Pflucker JC; Kroemer G; Penninger JM. 2001. Essential role of the mitochondrial apoptosis-inducing factor in programmed cell death. Nature 410(6828):549-54. [PubMed: 11279485] [MGI Ref ID J:68434]
Loeffler M; Daugas E; Susin SA; Zamzami N; Metivier D; Nieminen AL; Brothers G; Penninger JM; Kroemer G. 2001. Dominant cell death induction by extramitochondrially targeted apoptosis-inducing factor. FASEB J 15(3):758-67. [PubMed: 11259394] [MGI Ref ID J:67944]
Susin SA; Daugas E; Ravagnan L; Samejima K; Zamzami N; Loeffler M; Costantini P; Ferri KF; Irinopoulou T; Prevost MC; Brothers G; Mak TW; Penninger J; Earnshaw WC; Kroemer G. 2000. Two distinct pathways leading to nuclear apoptosis. J Exp Med 192(4):571-80. [PubMed: 10952727] [MGI Ref ID J:64229]
Aw-J relatedAifm1Hq relatedAberg 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]
Banerjee H; Das A; Srivastava S; Mattoo HR; Thyagarajan K; Khalsa JK; Tanwar S; Das DS; Majumdar SS; George A; Bal V; Durdik JM; Rath S. 2012. A role for apoptosis-inducing factor in T cell development. J Exp Med 209(9):1641-53. [PubMed: 22869892] [MGI Ref ID J:191446]
Barsh 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]
Chinta SJ; Rane A; Yadava N; Andersen JK; Nicholls DG; Polster BM. 2009. Reactive oxygen species regulation by AIF- and complex I-depleted brain mitochondria. Free Radic Biol Med 46(7):939-47. [PubMed: 19280713] [MGI Ref ID J:145908]
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]
Cunningham D; Spychala K; McLarren KW; Garza LA; Boerkoel CF; Herman GE. 2009. Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse. Mol Genet Metab 98(4):356-66. [PubMed: 19631568] [MGI Ref ID J:155028]
Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. [PubMed: 5798139] [MGI Ref ID J:30922]
Esibizione D; Cui CY; Schlessinger D. 2008. Candidate EDA targets revealed by expression profiling of primary keratinocytes from Tabby mutant mice. Gene 427(1-2):42-6. [PubMed: 18848976] [MGI Ref ID J:143603]
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]
Hisatomi T; Nakao S; Murakami Y; Noda K; Nakazawa T; Notomi S; Connolly E; She H; Almulki L; Ito Y; Vavvas DG; Ishibashi T; Miller JW. 2012. The regulatory roles of apoptosis-inducing factor in the formation and regression processes of ocular neovascularization. Am J Pathol 181(1):53-61. [PubMed: 22613025] [MGI Ref ID J:185543]
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]
Knapp PE; Adjan VV; Hauser KF. 2009. Cell-specific loss of kappa-opioid receptors in oligodendrocytes of the dysmyelinating jimpy mouse. Neurosci Lett 451(2):114-8. [PubMed: 19110031] [MGI Ref ID J:146365]
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]
Martin LA; Goldowitz D; Mittleman G. 2010. Repetitive behavior and increased activity in mice with Purkinje cell loss: a model for understanding the role of cerebellar pathology in autism. Eur J Neurosci 31(3):544-55. [PubMed: 20105240] [MGI Ref ID J:159466]
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]
Prtenjaca A; Hill KA. 2011. Mutation frequency is not elevated in the cerebellum of harlequin/Big Blue((R)) mice but Class II deletions occur preferentially in young harlequin cerebellum. Mutat Res 707(1-2):53-60. [PubMed: 21195094] [MGI Ref ID J:168461]
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]
Zhang M; Su YQ; Sugiura K; Xia G; Eppig JJ. 2010. Granulosa cell ligand NPPC and its receptor NPR2 maintain meiotic arrest in mouse oocytes. Science 330(6002):366-9. [PubMed: 20947764] [MGI Ref ID J:164870]
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]
Armand AS; Laziz I; Djeghloul D; Lecolle S; Bertrand AT; Biondi O; De Windt LJ; Chanoine C. 2011. Apoptosis-inducing factor regulates skeletal muscle progenitor cell number and muscle phenotype. PLoS One 6(11):e27283. [PubMed: 22076146] [MGI Ref ID J:180991]
Bajt ML; Ramachandran A; Yan HM; Lebofsky M; Farhood A; Lemasters JJ; Jaeschke H. 2011. Apoptosis-inducing factor modulates mitochondrial oxidant stress in acetaminophen hepatotoxicity. Toxicol Sci 122(2):598-605. [PubMed: 21572097] [MGI Ref ID J:174997]
Banerjee H; Das A; Srivastava S; Mattoo HR; Thyagarajan K; Khalsa JK; Tanwar S; Das DS; Majumdar SS; George A; Bal V; Durdik JM; Rath S. 2012. A role for apoptosis-inducing factor in T cell development. J Exp Med 209(9):1641-53. [PubMed: 22869892] [MGI Ref ID J:191446]
Barber BR. 1971. Two new mutations Mouse News Lett 45:34-5. [MGI Ref ID J:15073]
Benit P; Goncalves S; Dassa EP; Briere JJ; Rustin P. 2008. The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. PLoS ONE 3(9):e3208. [PubMed: 18791645] [MGI Ref ID J:144096]
Bronson RT; Lane PW; Harris BS; Davisson MT. 1990. Harlequin (Hq) produces progressive cerebellar cortical atrophy Mouse Genome 87:110. [MGI Ref ID J:79052]
Cheung EC; Melanson-Drapeau L; Cregan SP; Vanderluit JL; Ferguson KL; McIntosh WC; Park DS; Bennett SA; Slack RS. 2005. Apoptosis-inducing factor is a key factor in neuronal cell death propagated by BAX-dependent and BAX-independent mechanisms. J Neurosci 25(6):1324-34. [PubMed: 15703386] [MGI Ref ID J:98103]
Chinta SJ; Rane A; Yadava N; Andersen JK; Nicholls DG; Polster BM. 2009. Reactive oxygen species regulation by AIF- and complex I-depleted brain mitochondria. Free Radic Biol Med 46(7):939-47. [PubMed: 19280713] [MGI Ref ID J:145908]
Chung SH; Calafiore M; Plane JM; Pleasure DE; Deng W. 2011. Apoptosis inducing factor deficiency causes reduced mitofusion 1 expression and patterned Purkinje cell degeneration. Neurobiol Dis 41(2):445-57. [PubMed: 20974255] [MGI Ref ID J:168637]
Falconer DS; Isaacson. 1972. Harlequin and brindled - linkage, and difference between coupling and repulsion phenotypes Mouse News Lett 47:28. [MGI Ref ID J:13531]
Hisatomi T; Nakao S; Murakami Y; Noda K; Nakazawa T; Notomi S; Connolly E; She H; Almulki L; Ito Y; Vavvas DG; Ishibashi T; Miller JW. 2012. The regulatory roles of apoptosis-inducing factor in the formation and regression processes of ocular neovascularization. Am J Pathol 181(1):53-61. [PubMed: 22613025] [MGI Ref ID J:185543]
Hisatomi T; Nakazawa T; Noda K; Almulki L; Miyahara S; Nakao S; Ito Y; She H; Kohno R; Michaud N; Ishibashi T; Hafezi-Moghadam A; Badley AD; Kroemer G; Miller JW. 2008. HIV protease inhibitors provide neuroprotection through inhibition of mitochondrial apoptosis in mice. J Clin Invest 118(6):2025-38. [PubMed: 18497877] [MGI Ref ID J:137728]
Hogan ME; King LE Jr; Sundberg JP. 1995. Defects of pelage hairs in 20 mouse mutations. J Invest Dermatol 104(5 Suppl):31S-32S. [PubMed: 7738386] [MGI Ref ID J:25255]
Kulic L; Wollmer MA; Rhein V; Pagani L; Kuehnle K; Cattepoel S; Tracy J; Eckert A; Nitsch RM. 2011. Combined expression of tau and the Harlequin mouse mutation leads to increased mitochondrial dysfunction, tau pathology and neurodegeneration. Neurobiol Aging 32(10):1827-38. [PubMed: 19942317] [MGI Ref ID J:176713]
Laliberte AM; MacPherson TC; Micks T; Yan A; Hill KA. 2011. Vision deficits precede structural losses in a mouse model of mitochondrial dysfunction and progressive retinal degeneration. Exp Eye Res 93(6):833-41. [PubMed: 21983042] [MGI Ref ID J:189461]
Oppenheim RW; Blomgren K; Ethell DW; Koike M; Komatsu M; Prevette D; Roth KA; Uchiyama Y; Vinsant S; Zhu C. 2008. Developing postmitotic mammalian neurons in vivo lacking Apaf-1 undergo programmed cell death by a caspase-independent, nonapoptotic pathway involving autophagy. J Neurosci 28(6):1490-7. [PubMed: 18256270] [MGI Ref ID J:131954]
Prtenjaca A; Hill KA. 2011. Mutation frequency is not elevated in the cerebellum of harlequin/Big Blue((R)) mice but Class II deletions occur preferentially in young harlequin cerebellum. Mutat Res 707(1-2):53-60. [PubMed: 21195094] [MGI Ref ID J:168461]
Schulthess FT; Katz S; Ardestani A; Kawahira H; Georgia S; Bosco D; Bhushan A; Maedler K. 2009. Deletion of the mitochondrial flavoprotein apoptosis inducing factor (AIF) induces beta-cell apoptosis and impairs beta-cell mass. PLoS ONE 4(2):e4394. [PubMed: 19197367] [MGI Ref ID J:146480]
Slemmer JE; Zhu C; Landshamer S; Trabold R; Grohm J; Ardeshiri A; Wagner E; Sweeney MI; Blomgren K; Culmsee C; Weber JT; Plesnila N. 2008. Causal role of apoptosis-inducing factor for neuronal cell death following traumatic brain injury. Am J Pathol 173(6):1795-805. [PubMed: 18988795] [MGI Ref ID J:141414]
Srivastava S; Banerjee H; Chaudhry A; Khare A; Sarin A; George A; Bal V; Durdik JM; Rath S. 2007. Apoptosis-inducing factor regulates death in peripheral T cells. J Immunol 179(2):797-803. [PubMed: 17617569] [MGI Ref ID J:149344]
Stringer JR; Larson JS; Fischer JM; Stringer SL. 2004. Increased mutation in mice genetically predisposed to oxidative damage in the brain. Mutat Res 556(1-2):127-34. [PubMed: 15491640] [MGI Ref ID J:93783]
Sundberg JP (ed.). 1994. Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. CRC Press, Boca Raton. [MGI Ref ID J:30359]
Vahsen N; Cande C; Briere JJ; Benit P; Joza N; Larochette N; Mastroberardino PG; Pequignot MO; Casares N; Lazar V; Feraud O; Debili N; Wissing S; Engelhardt S; Madeo F; Piacentini M; Penninger JM; Schagger H; Rustin P; Kroemer G. 2004. AIF deficiency compromises oxidative phosphorylation. EMBO J 23(23):4679-89. [PubMed: 15526035] [MGI Ref ID J:134036]
Zhu C; Wang X; Deinum J; Huang Z; Gao J; Modjtahedi N; Neagu MR; Nilsson M; Eriksson PS; Hagberg H; Luban J; Kroemer G; Blomgren K. 2007. Cyclophilin A participates in the nuclear translocation of apoptosis-inducing factor in neurons after cerebral hypoxia-ischemia. J Exp Med 204(8):1741-8. [PubMed: 17635954] [MGI Ref ID J:125956]
Zhu C; Wang X; Huang Z; Qiu L; Xu F; Vahsen N; Nilsson M; Eriksson PS; Hagberg H; Culmsee C; Plesnila N; Kroemer G; Blomgren K. 2007. Apoptosis-inducing factor is a major contributor to neuronal loss induced by neonatal cerebral hypoxia-ischemia. Cell Death Differ 14(4):775-84. [PubMed: 17039248] [MGI Ref ID J:134831]
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Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Room Number FGB29
Colony Maintenance
Breeding & Husbandry Comments: Hq/Y males need to stay with their mothers an extra week or more because they are too small to wean at 3 weeks. Diet Information LabDiet® 5K52/5K67
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
|
Live Mice
Price per mouse (US dollars $) Gender Genotypes Provided Individual Mouse $177.00 Male Hemizygous for Aifm1Hq $177.00 Female Heterozygous for Aifm1Hq
Price per Pair (US dollars $) Pair Genotype $354.00 Heterozygous for Aifm1Hq x Hemizygous for Aifm1Hq $241.00 Heterozygous for Aifm1Hq x Wild-type for Aifm1Hq Standard Supply
Repository-Live. Repository-Live represents an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. Repository-live orders are treated as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
| Pricing for International shipping destinations |
|
Live Mice
Price per mouse (US dollars $) Gender Genotypes Provided Individual Mouse $230.10 Male Hemizygous for Aifm1Hq $230.10 Female Heterozygous for Aifm1Hq
Price per Pair (US dollars $) Pair Genotype $460.20 Heterozygous for Aifm1Hq x Hemizygous for Aifm1Hq $313.30 Heterozygous for Aifm1Hq x Wild-type for Aifm1Hq Standard Supply
Repository-Live. Repository-Live represents an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. Repository-live orders are treated as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
|
|
|
Standard Supply
Repository-Live. Repository-Live represents an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. Repository-live orders are treated as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
General Supply Notes
- View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
Payment Terms and Conditions
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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
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Terms of Use
Terms of Use
General Terms and Conditions
Contact information
General inquiries regarding Terms of UseContracts 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
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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.
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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.