Strain Name:

B6CBACa Aw-J/A-Aifm1Hq/J

Stock Number:

000501

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Availability:

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Hemizygous male and homozygous female Harlequin mice are nearly bald with eventual, noticeable ataxia. These mice are characterized by delayed cerebellar cortical atrophy with an apoptotic loss of granule cells, a necrotic loss of Purkinje cells, and retinal degeneration. These mice may be useful in studies of neurodegenerative degeneration including Alzheimer's disease.

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;
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Specieslaboratory mouse
GenerationN15F1p+N31 (05-AUG-14)
Generation Definitions

Appearance
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/+ female

Description
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

View Strains carrying   Aw-J     (30 strains)

Strains carrying other alleles of a
002655   Mus pahari/EiJ
000251   AEJ.Cg-ae +/a Gdf5bp-H/J
000202   AEJ/Gn-bd/J
000199   AEJ/GnLeJ
000433   B10.C-H3c H13? A/(28NX)SnJ
000427   B10.CE-H13b Aw/(30NX)SnJ
000423   B10.KR-H13? A/SnJ
000420   B10.LP-H13b Aw/Sn
000477   B10.PA-Bloc1s6pa H3e at/SnJ
000419   B10.UW-H3b we Pax1un at/SnJ
003879   B10;TFLe-a/a T Itpr3tf/+ Itpr3tf/J
001538   B6 x B6C3Sn a/A-T(1;9)27H/J
000916   B6 x B6C3Sn a/A-T(5;12)31H/J
000602   B6 x B6C3Sn a/A-T(8;16)17H/J
002083   B6 x B6EiC3 a/A-T(7;16)235Dn/J
000507   B6 x B6EiC3 a/A-Otcspf/J
003759   B6 x B6EiC3Sn a/A-T(10;16)232Dn/J
002071   B6 x B6EiC3Sn a/A-T(11;17)202Dn/J
002113   B6 x B6EiC3Sn a/A-T(11A2;16B3)238Dn/J
002068   B6 x B6EiC3Sn a/A-T(11B1;16B5)233Dn/J
002069   B6 x B6EiC3Sn a/A-T(14E4or5;16B5)225Dn/J
001926   B6 x B6EiC3Sn a/A-T(15;16)198Dn/J
001832   B6 x B6EiC3Sn a/A-T(15E;16B1)60Dn/J
003758   B6 x B6EiC3Sn a/A-T(16C3-4;17A2)65Dn/J
001833   B6 x B6EiC3Sn a/A-T(1C2;16C3)45Dn/J
001903   B6 x B6EiC3Sn a/A-T(6F;18C)57Dn/J
001535   B6 x B6EiC3Sn a/A-T(8A4;12D1)69Dn/J
001831   B6 x B6EiC3Sn a/A-T(8C3;16B5)164Dn/J
000618   B6 x FSB/GnEi a/a Ctslfs/J
000577   B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
000601   B6 x STOCK a/a T(7;18)50H/J
000592   B6 x STOCK T(2;4)13H a/J
000769   B6.C/(HZ18)By-at-44J/J
000203   B6.C3-Aiy/a/J
000017   B6.C3-Avy/J
001572   B6.C3-am-J/J
000628   B6.CE-A Amy1b Amy2a5b/J
000021   B6.Cg-Ay/J
014608   B6;129S1-a Kitlsl-24J/GrsrJ
000231   B6;C3Fe a/a-Csf1op/J
004200   B6;CBACa Aw-J/A-Npr2cn-2J/GrsrJ
000785   B6;D2-a Ces1ce/EiJ
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
001750   B6C3Fe a/a-Eif3cXs-J/J
002807   B6C3Fe a/a-Meox2fla/J
000506   B6C3Fe a/a-Qkqk-v/J
000224   B6C3Fe a/a-Scyl1mdf/J
003020   B6C3Fe a/a-Zdhhc21dep/J
001037   B6C3Fe a/a-Agtpbp1pcd/J
000221   B6C3Fe a/a-Alx4lst-J/J
002062   B6C3Fe a/a-Atp7aMo-8J/J
001756   B6C3Fe a/a-Cacng2stg/J
001815   B6C3Fe a/a-Col1a2oim/J
000209   B6C3Fe a/a-Dh/J
000211   B6C3Fe a/a-Dstdt-J/J
000210   B6C3Fe a/a-Edardl-J/J
000207   B6C3Fe a/a-Edaraddcr/J
000182   B6C3Fe a/a-Eef1a2wst/J
001278   B6C3Fe a/a-Glra1spd/J
000241   B6C3Fe a/a-Glrbspa/J
002875   B6C3Fe a/a-Hoxd13spdh/J
000304   B6C3Fe a/a-Krt71Ca Scn8amed-J/J
000226   B6C3Fe a/a-Largemyd/J
000636   B6C3Fe a/a-Lmx1adr-J/J
001280   B6C3Fe a/a-Lse/J
001573   B6C3Fe a/a-MitfMi/J
001035   B6C3Fe a/a-Napahyh/J
000181   B6C3Fe a/a-Otogtwt/J
000278   B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J
000205   B6C3Fe a/a-Papss2bm/J
002078   B6C3Fe a/a-Pcdh15av-2J/J
000246   B6C3Fe a/a-Pitpnavb/J
001430   B6C3Fe a/a-Ptch1mes/J
000235   B6C3Fe a/a-Relnrl/J
000237   B6C3Fe a/a-Rorasg/J
000290   B6C3Fe a/a-Sox10Dom/J
000230   B6C3Fe a/a-Tcirg1oc/J
003612   B6C3Fe a/a-Trak1hyrt/J
001512   B6C3Fe a/a-Ttnmdm/J
001607   B6C3Fe a/a-Unc5crcm/J
000005   B6C3Fe a/a-Wc/J
000243   B6C3Fe a/a-Wnt1sw/J
000248   B6C3Fe a/a-Xpl/J
000624   B6C3Fe a/a-anx/J
008044   B6C3Fe a/a-bpck/J
002018   B6C3Fe a/a-din/J
002339   B6C3Fe a/a-nma/J
000240   B6C3Fe a/a-soc/J
000063   B6C3Fe a/a-sy/J
001055   B6C3Fe a/a-tip/J
000245   B6C3Fe a/a-tn/J
000065   B6C3Fe a/a-we Pax1un at/J
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
000019   B6C3Fe-a/a-Itpr1opt/J
003301   B6C3FeF1 a/A-Eya1bor/J
001022   B6C3FeF1/J a/a
000314   B6CBACa Aw-J/A-EdaTa/J-XO
006450   B6EiC3 a/A-Vss/GrsrJ
000971   B6EiC3 a/A-Och/J
000551   B6EiC3 a/A-Tbx15de-H/J
000557   B6EiC3-+ a/LnpUl A/J
000504   B6EiC3Sn a/A-Cacnb4lh/J
000553   B6EiC3Sn a/A-Egfrwa2 Wnt3avt/J
000503   B6EiC3Sn a/A-Gy/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
000391   B6EiC3Sn a/A-Pax6Sey-Dey/J
001923   B6EiC3Sn a/A-Ts(417)2Lws TimT(4;17)3Lws/J
001875   B6EiC3SnF1/J
000638   C3FeB6 A/Aw-J-Sptbn4qv-J/J
000200   C3FeB6 A/Aw-J-Ankank/J
000225   C3FeLe.B6 a/a-Ptpn6me/J
000198   C3FeLe.B6-a/J
000291   C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J
001272   C3H/HeSnJ-Ahvy/J
000099   C3HeB/FeJ-Avy/J
001886   C3HeB/FeJLe a/a-gnd/J
000584   C57BL/6J-+ T(1;2)5Ca/a +/J
000258   C57BL/6J-Ai/a/J
000774   C57BL/6J-Asy/a/J
000055   C57BL/6J-at-33J/J
000070   C57BL/6J-atd/J
000284   CWD/LeJ
000670   DBA/1J
000671   DBA/2J
001057   HPT/LeJ
000260   JGBF/LeJ
002468   KK.Cg-Ay/J
000262   LS/LeJ
000283   LT.CAST-A/J
000265   MY/HuLeJ
000308   SSL/LeJ
001759   STOCK A Tyrc Sha/J
001427   STOCK Aw us/J
000994   STOCK a Myo5ad Mregdsu/J
000064   STOCK a Tyrp1b Pmelsi/J
002238   STOCK a Tyrp1b shmy/J
001433   STOCK a skt/J
000579   STOCK a tp/J
000319   STOCK a us/J
002648   STOCK a/a Cln6nclf/J
000302   STOCK a/a MitfMi-wh +/+ Itpr1opt/J
000286   STOCK a/a Myo5ad fd/+ +/J
000281   STOCK a/a Tmem79ma Flgft/J
000206   STOCK a/a Tyrc-h/J
001432   STOCK a/a Tyrp1b Ndc1sks/Tyrp1b +/J
000312   STOCK stb + a/+ Fignfi a/J
000596   STOCK T(2;11)30H/+ x AEJ-a Gdf5bp-H/J or A/J-a Gdf5bp-J/J
000970   STOCK T(2;16)28H A/T(2;16)28H a/J
000590   STOCK T(2;4)1Sn a/J
000594   STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
000623   TR/DiEiJ
001145   WSB/EiJ
View Strains carrying other alleles of a     (153 strains)

Additional Web Information

JAX® NOTES, Winter 2002; 488. Jackson Laboratory Scientist Identifies Gene Implicated in Oxidative Stress and Neurodegeneration.

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      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-Aifm1Hq/J
  • 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
      • side by side unsteady gait at 5 months of age   (MGI Ref ID J:79052)
      • marked lateral swaying when moving and at rest by 9 months of age   (MGI Ref ID J:79052)
    • ataxia
      • age of onset is approximately 5 months of age   (MGI Ref ID J:79052)
      • mild   (MGI Ref ID J:79052)
      • truncal ataxia by 9 months   (MGI Ref ID J:79052)
    • tremors
      • age of onset is approximately 5 months   (MGI Ref ID J:79052)
      • a perceptible lateral tremor at rest by 9 months of age   (MGI Ref ID J:79052)
  • 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 morphology
      • no reduction in the folia but extensive loss in the floccular lobes in mice 5-8 months of age   (MGI Ref ID J:79052)
      • losses are preferentially from the caudal vermis and hemispheres   (MGI Ref ID J:78983)
      • most caudal granule cells are lost by 12 months   (MGI Ref ID J:78983)
      • abnormal cerebellar granule cell morphology
        • pyknotic granule cell nuclei at 4 months of age   (MGI Ref ID J:78983)
        • apoptotic granule cells seen at 4 months of age   (MGI Ref ID J:78983)
  • 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
    • cerebellum normal before 3 months   (MGI Ref ID J:78983)
    • much smaller at 7 months   (MGI Ref ID J:78983)
  • vision/eye phenotype
  • abnormal eye electrophysiology
    • both rod and cone ERG are diminished by 4 months of age   (MGI Ref ID J:78983)
    • ERG responses are completely abolished by 10 months of age   (MGI Ref ID J:78983)
  • amacrine cell degeneration
    • cell loss is seen in the ganglion layer after about 3 months of age   (MGI Ref ID J:78983)
  • retinal degeneration
    • onset of retinal degeneration is after 3 months of age   (MGI Ref ID J:78983)
    • cell loss is seen in all layers of the retina by 11 months   (MGI Ref ID J:78983)
  • 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
    • cerebellar granule cells and retina cells re-enter the cell cycle with greater frequency than in controls   (MGI Ref ID J:78983)
    • number of cycling cells in the cerebellum and retina increase through 7 months and then declines   (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)
  • 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
    • increased sensitivity of the cerebellum to oxidative stress   (MGI Ref ID J:78983)
    • oxidative damage to mitochondria of the cerebellar granular layer and the ganglion layer of the retina   (MGI Ref ID J:78983)
    • slightly increased as a result of transverse aortic banding   (MGI Ref ID J:110278)
  • cardiovascular system phenotype
  • abnormal cardiovascular system morphology   (MGI Ref ID J:110278)
    • cardiac hypertrophy
      • hypertrophy due to transverse aorting banding is twice as great as is seen in controls   (MGI Ref ID J:110278)
    • dilated heart left ventricle
      • increased left ventricular internal diameter relative to controls as a result of transverse aortic banding   (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
      • increased sensitivity to ischemia/reperfusion injury   (MGI Ref ID J:110278)
      • over 80% fail to survive 30minutes of left anterior descending artery occlusion followed by 2 to 24 hours of reperfusion   (MGI Ref ID J:110278)
      • increased myocardial infarction size
        • experimental infarction size is increased by 50% over controls in 2 month old animals and by 78% in 6 month old animals   (MGI Ref ID J:110278)
        • apoptosis in viable muscle cells is also increased   (MGI Ref ID J:110278)
    • 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
    • increased sensitivity to ischemia/reperfusion injury   (MGI Ref ID J:110278)
    • over 80% fail to survive 30minutes of left anterior descending artery occlusion followed by 2 to 24 hours of reperfusion   (MGI Ref ID J:110278)
    • increased myocardial infarction size
      • experimental infarction size is increased by 50% over controls in 2 month old animals and by 78% in 6 month old animals   (MGI Ref ID J:110278)
      • apoptosis in viable muscle cells is also increased   (MGI Ref ID J:110278)
  • 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
      • side by side unsteady gait at 5 months of age   (MGI Ref ID J:79052)
      • marked lateral swaying when moving and at rest by 9 months of age   (MGI Ref ID J:79052)
    • ataxia
      • age of onset is approximately 5 months of age   (MGI Ref ID J:79052)
      • mild   (MGI Ref ID J:79052)
      • truncal ataxia by 9 months   (MGI Ref ID J:79052)
    • tremors
      • age of onset is approximately 5 months   (MGI Ref ID J:79052)
      • a perceptible lateral tremor at rest by 9 months of age   (MGI Ref ID J:79052)
  • 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 morphology
      • losses are preferentially from the caudal vermis and hemispheres   (MGI Ref ID J:78983)
      • most caudal granule cells are lost by 12 months   (MGI Ref ID J:78983)
      • no reduction in the folia but extensive loss in the floccular lobes in mice 5-8 months of age   (MGI Ref ID J:79052)
      • abnormal cerebellar granule cell morphology
        • pyknotic granule cell nuclei at 4 months of age   (MGI Ref ID J:78983)
        • apoptotic granule cells seen at 4 months of age   (MGI Ref ID J:78983)
  • 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
    • much smaller at 7 months   (MGI Ref ID J:78983)
    • cerebellum normal before 3 months   (MGI Ref ID J:78983)
  • vision/eye phenotype
  • abnormal eye electrophysiology
    • both rod and cone ERG are diminished by 4 months of age   (MGI Ref ID J:78983)
    • ERG responses are completely abolished by 10 months of age   (MGI Ref ID J:78983)
  • amacrine cell degeneration
    • cell loss is seen in the ganglion layer after 3 months of age   (MGI Ref ID J:78983)
  • retinal degeneration
    • onset of retinal degeneration is after 3 months of age   (MGI Ref ID J:78983)
    • cell loss is seen in all layers of the retina by 11 months   (MGI Ref ID J:78983)
  • 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
    • cerebellar granule cells and retina cells re-enter the cell cycle with greater frequency than in controls   (MGI Ref ID J:78983)
    • number of cycling cells in the cerebellum and retina increase through 7 months and then declines   (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)
  • 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
    • increased sensitivity of the cerebellum to oxidative stress   (MGI Ref ID J:78983)
    • oxidative damage to mitochondria of the cerebellar granular layer and the ganglion layer of the retina   (MGI Ref ID J:78983)
    • slightly increased as a result of transverse aortic banding   (MGI Ref ID J:110278)
  • cardiovascular system phenotype
  • abnormal cardiovascular system morphology   (MGI Ref ID J:110278)
    • cardiac hypertrophy
      • hypertrophy due to transverse aorting banding is twice as great as is seen in controls   (MGI Ref ID J:110278)
    • dilated heart left ventricle
      • increased left ventricular internal diameter relative to controls as a result of transverse aortic banding   (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
      • increased sensitivity to ischemia/reperfusion injury   (MGI Ref ID J:110278)
      • over 80% fail to survive 30minutes of left anterior descending artery occlusion followed by 2 to 24 hours of reperfusion   (MGI Ref ID J:110278)
      • increased myocardial infarction size
        • experimental infarction size is increased by 50% over controls in 2 month old animals and by 78% in 6 month old animals   (MGI Ref ID J:110278)
        • apoptosis in viable muscle cells is also increased   (MGI Ref ID J:110278)
    • 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
    • increased sensitivity to ischemia/reperfusion injury   (MGI Ref ID J:110278)
    • over 80% fail to survive 30minutes of left anterior descending artery occlusion followed by 2 to 24 hours of reperfusion   (MGI Ref ID J:110278)
    • increased myocardial infarction size
      • experimental infarction size is increased by 50% over controls in 2 month old animals and by 78% in 6 month old animals   (MGI Ref ID J:110278)
      • apoptosis in viable muscle cells is also increased   (MGI Ref ID J:110278)
  • 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 is associated with a similar, but not exact match to this JAX® Mice strain.

Aifm1Hq/Aifm1Hq

        involves: CF-1
  • growth/size/body 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-1
  • growth/size/body 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)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Aifm1Hq related

Apoptosis Research
Endogenous Regulators

Cardiovascular Research

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 OriginC57BL/6J
Gene Symbol and Name a, nonagouti
Chromosome 2
Gene Common Name(s) ASP; As; agouti; agouti signal protein; agouti suppressor;
 
Allele Symbol Aifm1Hq
Allele Name harlequin
Allele Type Spontaneous
Common Name(s) Hq; Pcdc8hq;
Strain of OriginCF-1
Gene Symbol and Name Aifm1, apoptosis-inducing factor, mitochondrion-associated 1
Chromosome X
Gene Common Name(s) AIF; AIFsh2; CMT2D; CMTX4; COWCK; COXPD6; Hq; NADMR; NAMSD; 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

Additional References

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]

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]

Aifm1Hq related

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]

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]

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]

Xu A; Szczepanek K; Hu Y; Lesnefsky EJ; Chen Q. 2013. Cardioprotection by modulation of mitochondrial respiration during ischemia-reperfusion: role of apoptosis-inducing factor. Biochem Biophys Res Commun 435(4):627-33. [PubMed: 23685150]  [MGI Ref ID J:202636]

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]

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]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           FGB27

Colony Maintenance

Breeding & HusbandryComments: 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 View International Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $199.90MaleHemizygous for Aifm1Hq  
$199.90FemaleHeterozygous for Aifm1Hq  
Price per Pair (US dollars $)Pair Genotype
$399.80Heterozygous for Aifm1Hq x Hemizygous for Aifm1Hq  
$271.90Heterozygous for Aifm1Hq x Wild-type for Aifm1Hq  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $259.90MaleHemizygous for Aifm1Hq  
$259.90FemaleHeterozygous for Aifm1Hq  
Price per Pair (US dollars $)Pair Genotype
$519.80Heterozygous for Aifm1Hq x Hemizygous for Aifm1Hq  
$353.50Heterozygous for Aifm1Hq x Wild-type for Aifm1Hq  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

General Supply Notes

  • View the complete collection of spontaneous mutants in the Mouse Mutant 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

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.
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JAX® Mice
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Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
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Terms of Use

Terms of Use


General Terms and Conditions


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General inquiries regarding Terms of Use

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phone:207-288-6470

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.


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