Strain Name:

B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J

Stock Number:

000593

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Availability:

Cryopreserved - Ready for recovery

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names B6 x B6CBACa-Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh    (Changed: 15-DEC-04 )
T7Ca    (Changed: 15-DEC-04 )
Type Chromosome Aberration; Translocation;
Additional information on Mice with Chromosomal Aberrations.
Type Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse
GenerationN2
Generation Definitions

Description
Mice homozygous for the MitfMi spontaneous mutation are characterized by decreased macrophage chemotactic responses, impaired proliferative responses to B cell and T cell mitogens, diminished responses in vitro to T-dependent and T-independent antigens and reduced NK cell activity.

Related Strains

Reciprocal Translocations
000612   AEJ.Cg-T(10;14)8Rk/J
001138   AEJ.Cg-T(3;12)30Rk/J
001102   AEJ.Cg-T(5;8)3Rk/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
000599   B6 x B6CBCa Aw-J/A-T(5;13)264Ca KitW-v/J
002083   B6 x B6EiC3 a/A-T(7;16)235Dn/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
000601   B6 x STOCK a/a T(7;18)50H/J
000951   B6 x STOCK T(10;18)18H/J
000597   B6 x STOCK T(2;16)28H/J
000961   B6 x STOCK T(2;3)24H/J
000592   B6 x STOCK T(2;4)13H a/J
000950   B6 x STOCK T(2;8)26H/J
000595   B6 x STOCK T(2;9)11H/J
001820   B6 x STOCK T(2D;11B5)4Dn/J
000600   B6-Gpi1b x B6CBCa Aw-J/A-T(7;15)9H Gpi1a/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
000584   C57BL/6J-+ T(1;2)5Ca/a +/J
000586   C57BL/6J-T(1;13)70H/J
001961   C57BL/6JEi x STOCK T T(16;17)43H/+ T(16;17)43H/Ei
000655   CBA/CaH-T(14;15)6Ca/J
001911   STOCK In(1)24Rk T(In1;13)2Rk/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
001101   STOCK T(3;4)5Rk Tyrp1b/J
001752   STOCK T(7;15)9H/J
001816   STOCK T(7;18)50H/J
001628   STOCK T(9;17)10Ad/J
000603   STOCK T(9;17)138Ca/J
000583   STOCK T(X;16)16H +/+ EdaTa
000588   TF/GnLe-T(1;17)190Ca +/+ Itpr3tf/J
View Reciprocal Translocations     (46 strains)

View Strains carrying   Aw-J     (30 strains)

Strains carrying   Grid2Lc allele
001046   B6CBACa Aw-J/A-Grid2Lc/J
View Strains carrying   Grid2Lc     (1 strain)

View Strains carrying   MitfMi-wh     (7 strains)

Strains carrying other alleles of Grid2
002440   B6 x BALB/cByJ-Grid2Lc-J/J
005447   C57BL/6J-Grid2ho-16J/J
005718   C57BL/6J-Grid2ho-17J/J
000527   C57BL/6J-Grid2ho-5J/J
000548   DBA/2J-Grid2ho-4J/J
View Strains carrying other alleles of Grid2     (5 strains)

Strains carrying other alleles of Mitf
003046   B6(FVB)-MitfMi-Mee/J
000158   B6.Cg-MitfMi-wh/MitfMi/J
000184   B6.Cg-MitfMi-wh/Mitfmi-rw/J
000157   B6.Cg-MitfMi-wh/Mitfmi-sp/J
001573   B6C3Fe a/a-MitfMi/J
000956   B6CB-Mitfmi-rw/J
002611   C57BL/6J-Mitfmi-bws/J
002134   C57BL/6J-Mitfmi-vit/J
View Strains carrying other alleles of Mitf     (8 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
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
000317   STOCK a/a Egfrwa2/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)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Albinism, Ocular, with Sensorineural Deafness   (MITF)
Melanoma, Cutaneous Malignant, Susceptibility to, 8; CMM8   (MITF)
Tietz Syndrome   (MITF)
Waardenburg Syndrome, Type 2A; WS2A   (MITF)
View Research Applications

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

Research Tools
Genetics Research

Grid2Lc related

Developmental Biology Research
Embryonic Lethality (Homozygous)

Neurobiology Research
Ataxia (Movement) Defects
Cerebellar Defects
      Purkinje cell defect
Receptor Defects
      glutamate receptor: ionotropic
Vestibular Defects

MitfMi-wh related

Dermatology Research
Color and White Spotting Defects

Endocrine Deficiency Research
Bone/Bone Marrow Defects

Immunology, Inflammation and Autoimmunity Research
Immunodeficiency Associated with Other Defects

Neurobiology Research
Hearing Defects

Sensorineural Research
Eye Defects
Hearing Defects

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) AGSW; AGTI; AGTIL; ASP; As; SHEP9; agouti; agouti signal protein; agouti suppressor;
 
Allele Symbol Grid2Lc
Allele Name lurcher
Allele Type Spontaneous
Common Name(s) GluD2LC; Grid2-Lc; lc;
Strain of OriginSTOCK Mitf
Gene Symbol and Name Grid2, glutamate receptor, ionotropic, delta 2
Chromosome 6
Gene Common Name(s) B230104L07Rik; GluD2; GluRdelta2; Lc; LcJ; RIKEN cDNA B230104L07 gene; cpr; creeper; ho; hotfoot; lurcher; lurcher Jackson; neuroscience mutagenesis facility, 408; nmf408; tapdancer; tpr;
Molecular Note This allele comprises a nucleotide substitution that causes a change in an amino acid in the third transmembrane domain of Grid2. [MGI Ref ID J:42431]
 
Allele Symbol MitfMi-wh
Allele Name white
Allele Type Spontaneous
Common Name(s) Miwh; mitfwh;
Strain of Origin(C57BL x DBA)F1
Gene Symbol and Name Mitf, microphthalmia-associated transcription factor
Chromosome 6
Gene Common Name(s) BCC2; CMM8; Gsfbcc2; MI; WS2; WS2A; bHLHe32; black eyed white; bw; gsf bright coat colour 2; mi; microphthalmia; vit; vitiligo; wh;
General Note Combination heterozygotes of MitfMi-wh/MitfMi, MitfMi-wh/MitfMi-b, and MitfMi-wh/MitfMi-ws show some interallelic complementation in that the heterozygote of the two alleles is more nearlynormal than either homozygote (J:12967, J:19656). MitfMi-b/MitfMi-wh agouti mice are light cream with white spots and ruby eyes (J:15061).
Molecular Note T to A transversion at bp 764, which leads to an isoleucine to asparagine substitution at the corresponding amino acid (212) in the encoded protein. This mutation is in the basic region of the protein. [MGI Ref ID J:19656] [MGI Ref ID J:21366]
 
Gene Symbol and Name T(2;6)7Ca, reciprocal translocation, Chr 2 and 6, Carter 7
Chromosome 6
Gene Common Name(s) T7Ca;

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Hodgkinson CA; Moore KJ; Nakayama A; Steingrimsson E; Copeland NG; Jenkins NA; Arnheiter H. 1993. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell 74(2):395-404. [PubMed: 8343963]  [MGI Ref ID J:13562]

Raisz LG; Simmons HA; Gworek SC; Eilon G. 1977. Studies on congenital osteopetrosis in microphthalmic mice using organ cultures: impairment of bone resorption in response to physiologic stimulators. J Exp Med 145(4):857-65. [PubMed: 870607]  [MGI Ref ID J:5804]

Steingrimsson E; Moore KJ; Lamoreux ML; Ferre-D'Amare AR; Burley SK; Zimring DC; Skow LC; Hodgkinson CA; Arnheiter H; Copeland NG; Jenkins NA. 1994. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences [see comments] Nat Genet 8(3):256-63. [PubMed: 7874168]  [MGI Ref ID J:21366]

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]

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Resibois A; Cuvelier L; Goffinet AM. 1997. Abnormalities in the cerebellum and brainstem in homozygous lurcher mice. Neuroscience 80(1):175-90. [PubMed: 9252230]  [MGI Ref ID J:42550]

Rossi F; Jankovski A; Sotelo C. 1995. Target neuron controls the integrity of afferent axon phenotype: a study on the Purkinje cell-climbing fiber system in cerebellar mutant mice. J Neurosci 15(3 Pt 1):2040-56. [PubMed: 7891151]  [MGI Ref ID J:23733]

Ryo Y; Miyawaki A; Furuichi T; Mikoshiba K. 1993. Expression of the metabotropic glutamate receptor mGluR1 alpha and the ionotropic glutamate receptor GluR1 in the brain during the postnatal development of normal mouse and in the cerebellum from mutant mice. J Neurosci Res 36(1):19-32. [PubMed: 8230318]  [MGI Ref ID J:14425]

Sassa T; Gomi H; Itohara S. 2004. Postnatal expression of Cdkl2 in mouse brain revealed by LacZ inserted into the Cdkl2 locus. Cell Tissue Res 315(2):147-56. [PubMed: 14605869]  [MGI Ref ID J:105081]

Selimi F; Doughty M; Delhaye-Bouchaud N; Mariani J. 2000. Target-related and intrinsic neuronal death in Lurcher mutant mice are both mediated by caspase-3 activation. J Neurosci 20(3):992-1000. [PubMed: 10648704]  [MGI Ref ID J:59973]

Selimi F; Lohof AM; Heitz S; Lalouette A; Jarvis CI; Bailly Y; Mariani J. 2003. Lurcher GRID2-induced death and depolarization can be dissociated in cerebellar Purkinje cells. Neuron 37(5):813-9. [PubMed: 12628171]  [MGI Ref ID J:82240]

Selimi F; Vogel MW; Mariani J. 2000. Bax inactivation in lurcher mutants rescues cerebellar granule cells but not purkinje cells or inferior olivary neurons. J Neurosci 20(14):5339-45. [PubMed: 10884318]  [MGI Ref ID J:63483]

Soha JM; Herrup K. 1993. Purkinje cell dendrites in staggerer<-->wild type mouse chimeras lack the aberrant morphologies found in lurcher<-->wild type chimeras. J Comp Neurol 331(4):540-50. [PubMed: 8509510]  [MGI Ref ID J:12149]

Soha JM; Herrup K. 1995. Stunted morphologies of cerebellar Purkinje cells in lurcher and staggerer mice are cell-intrinsic effects of the mutant genes. J Comp Neurol 357(1):65-75. [PubMed: 7673468]  [MGI Ref ID J:26094]

Strazielle C; Kremarik P; Ghersi-Egea JF; Lalonde R. 1998. Regional brain variations of cytochrome oxidase activity and motor coordination in Lurcher mutant mice. Exp Brain Res 121(1):35-45. [PubMed: 9698188]  [MGI Ref ID J:49021]

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Swisher DA; Wilson DB. 1977. Cerebellar histogenesis in the lurcher (Lc) mutant mouse. J Comp Neurol 173(1):205-18. [PubMed: 845284]  [MGI Ref ID J:5786]

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Tomey DA; Heckroth JA. 1993. Transplantation of normal embryonic cerebellar cell suspensions into the cerebellum of lurcher mutant mice. Exp Neurol 122(1):165-70. [PubMed: 8339786]  [MGI Ref ID J:14032]

Van Der Giessen RS; Koekkoek SK; van Dorp S; De Gruijl JR; Cupido A; Khosrovani S; Dortland B; Wellershaus K; Degen J; Deuchars J; Fuchs EC; Monyer H; Willecke K; De Jeu MT; De Zeeuw CI. 2008. Role of olivary electrical coupling in cerebellar motor learning. Neuron 58(4):599-612. [PubMed: 18498740]  [MGI Ref ID J:145292]

Vernet-der Garabedian B; Lemaigre-Dubreuil Y; Delhaye-Bouchaud N ; Mariani J. 1998. Abnormal IL-1beta cytokine expression in the cerebellum of the ataxic mutant mice staggerer and lurcher. Brain Res Mol Brain Res 62(2):224-7. [PubMed: 9813341]  [MGI Ref ID J:51056]

Vig PJ; Desaiah D; Joshi P; Subramony SH; Fratkin JD; Currier RD. 1994. Decreased insulin-like growth factor I-mediated protein tyrosine phosphorylation in human olivopontocerebellar atrophy and lurcher mutant mouse. J Neurol Sci 124(1):38-44. [PubMed: 7931420]  [MGI Ref ID J:18719]

Vig PJ; Desaiah D; Subramony SH; Fratkin JD. 1995. Developmental changes in cerebellar endothelin-1 receptors in the neurologic mouse lurcher mutant. Res Commun Mol Pathol Pharmacol 89(3):307-16. [PubMed: 8680799]  [MGI Ref ID J:29595]

Vig PJ; Subramony SH; Currier RD; Desaiah D. 1992. Inositol 1,4,5-trisphosphate metabolism in the cerebella of Lurcher mutant mice and patients with olivopontocerebellar atrophy. J Neurol Sci 110(1-2):139-43. [PubMed: 1506853]  [MGI Ref ID J:1412]

Vogel MW; Caston J; Yuzaki M; Mariani J. 2007. The Lurcher mouse: fresh insights from an old mutant. Brain Res 1140:4-18. [PubMed: 16412991]  [MGI Ref ID J:120633]

Vogel MW; McInnes M; Zanjani HS; Herrup K. 1991. Cerebellar Purkinje cells provide target support over a limited spatial range: evidence from lurcher chimeric mice. Brain Res Dev Brain Res 64(1-2):87-94. [PubMed: 1786651]  [MGI Ref ID J:12661]

Vogel MW; Prittie J. 1994. Topographic spinocerebellar mossy fiber projections are maintained in the lurcher mutant. J Comp Neurol 343(2):341-51. [PubMed: 7517964]  [MGI Ref ID J:17831]

Wang QJ; Ding Y; Kohtz S; Mizushima N; Cristea IM; Rout MP; Chait BT; Zhong Y; Heintz N; Yue Z. 2006. Induction of autophagy in axonal dystrophy and degeneration. J Neurosci 26(31):8057-68. [PubMed: 16885219]  [MGI Ref ID J:111138]

Wetts R; Herrup K. 1982. Cerebellar Purkinje cells are descended from a small number of progenitors committed during early development: quantitative analysis of lurcher chimeric mice. J Neurosci 2(10):1494-8. [PubMed: 7119869]  [MGI Ref ID J:6866]

Wetts R; Herrup K. 1983. Direct correlation between Purkinje and granule cell number in the cerebella of lurcher chimeras and wild-type mice. Brain Res Dev Brain Res 312(1):41-7. [PubMed: 6652508]  [MGI Ref ID J:12731]

Wetts R; Herrup K. 1982. Interaction of granule, Purkinje and inferior olivary neurons in lurcher chimaeric mice. I. Qualitative studies. J Embryol Exp Morphol 68:87-98. [PubMed: 7108427]  [MGI Ref ID J:6841]

Wetts R; Herrup K. 1982. Interaction of granule, Purkinje and inferior olivary neurons in lurcher chimeric mice. II. Granule cell death. Brain Res 250(2):358-62. [PubMed: 7171994]  [MGI Ref ID J:6913]

Wullner U; Isenmann S; Gleichmann M; Klockgether T; Bahr M. 1998. Expression of neurotrophins and neurotrophin receptors in the cerebellum of mutant weaver and lurcher mice. Brain Res Dev Brain Res 110(1):1-6. [PubMed: 9733904]  [MGI Ref ID J:109191]

Wullner U; Loschmann PA; Weller M; Klockgether T. 1995. Apoptotic cell death in the cerebellum of mutant weaver and lurcher mice. Neurosci Lett 200(2):109-12. [PubMed: 8614556]  [MGI Ref ID J:33895]

Wullner U; Weller M; Schulz JB; Krajewski S; Reed JC; Klockgether T. 1998. Bcl-2, Bax and Bcl-x expression in neuronal apoptosis: a study of mutant weaver and lurcher mice. Acta Neuropathol (Berl) 96(3):233-8. [PubMed: 9754955]  [MGI Ref ID J:56232]

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]

Yue Z; Horton A; Bravin M; DeJager P; Selimi F; Heintz N. 2002. A Novel Protein Complex Linking the delta2 Glutamate Receptor and Autophagy. Implications for Neurodegeneration in Lurcher Mice. Neuron 35(5):921-933. [PubMed: 12372286]  [MGI Ref ID J:78719]

Zanjani HS; Vogel MW; Martinou JC; Delhaye-Bouchaud N; Mariani J. 1998. Postnatal expression of Hu-bcl-2 gene in Lurcher mutant mice fails to rescue Purkinje cells but protects inferior olivary neurons from target-related cell death. J Neurosci 18(1):319-27. [PubMed: 9412510]  [MGI Ref ID J:119889]

Zuo J; De Jager PL; Norman DJ; Heintz N. 1995. Generation of a high-resolution genetic map and a YAC contig of the Lurcher locus on mouse chromosome 6. Genome Res 5(4):381-92. [PubMed: 8750197]  [MGI Ref ID J:30546]

Zuo J; De Jager PL; Takahashi KA; Jiang W; Linden DJ; Heintz N. 1997. Neurodegeneration in Lurcher mice caused by mutation in delta2 glutamate receptor gene [see comments] Nature 388(6644):769-73. [PubMed: 9285588]  [MGI Ref ID J:42431]

MitfMi-wh related

Asher JH Jr; Friedman TB. 1990. Mouse and hamster mutants as models for Waardenburg syndromes in humans. J Med Genet 27(10):618-26. [PubMed: 2246770]  [MGI Ref ID J:200892]

Beechey CV. 2004. A reassessment of imprinting regions and phenotypes on mouse chromosome 6: Nap1l5 locates within the currently defined sub-proximal imprinting region. Cytogenet Genome Res 107(1-2):108-14. [PubMed: 15305064]  [MGI Ref ID J:93134]

Boissy RE; Lamoreux ML. 1995. In vivo and in vitro morphological analysis of melanocytes homozygous for the misp allele at the murine microphthalmia locus. Pigment Cell Res 8(6):294-301. [PubMed: 8789737]  [MGI Ref ID J:31402]

Debbache J; Zaidi MR; Davis S; Guo T; Bismuth K; Wang X; Skuntz S; Maric D; Pickel J; Meltzer P; Merlino G; Arnheiter H. 2012. In vivo Role of Alternative Splicing and Serine Phosphorylation of the Microphthalmia-associated Transcription Factor MITF. Genetics :. [PubMed: 22367038]  [MGI Ref ID J:182722]

Deol MS. 1970. The relationship between abnormalities of pigmentation and of the inner ear. Proc R Soc Lond B Biol Sci 175(39):201-17. [PubMed: 4392283]  [MGI Ref ID J:125080]

Diwakar G; Zhang D; Jiang S; Hornyak TJ. 2008. Neurofibromin as a regulator of melanocyte development and differentiation. J Cell Sci 121(Pt 2):167-77. [PubMed: 18089649]  [MGI Ref ID J:130856]

Grobman AB; Charles DR. 1947. Mutant white mice. A new dominant autosomal mutant affecting coat color in Mus musculus. J Hered 38:381-384.  [MGI Ref ID J:13058]

Gruneberg H. 1953. The relations of microphthalmia and white in the mouse. J Genet 51:359-362.  [MGI Ref ID J:13042]

Hollander WF. 1968. Complementary alleles at the mi-locus in the mouse. Genetics 60:189.  [MGI Ref ID J:12967]

Ito A; Jippo T; Wakayama T; Morii E; Koma Y; Onda H; Nojima H; Iseki S; Kitamura Y. 2003. SgIGSF: a new mast-cell adhesion molecule used for attachment to fibroblasts and transcriptionally regulated by MITF. Blood 101(7):2601-8. [PubMed: 12456501]  [MGI Ref ID J:115530]

Jippo T; Morii E; Ito A; Kitamura Y. 2003. Effect of anatomical distribution of mast cells on their defense function against bacterial infections: demonstration using partially mast cell-deficient tg/tg mice. J Exp Med 197(11):1417-25. [PubMed: 12771178]  [MGI Ref ID J:83732]

Kim DK; Morii E; Ogihara H; Lee YM; Jippo T; Adachi S; Maeyama K; Kim HM; Kitamura Y. 1999. Different effect of various mutant MITF encoded by mi, Mior, or Miwh allele on phenotype of murine mast cells. Blood 93(12):4179-86. [PubMed: 10361115]  [MGI Ref ID J:55734]

Konyukhov BV; Kindyakov BN; Malinina NA. 1994. Effects of the white allele of the mi locus on coat pigmentation in chimeric mice. Genet Res 63(3):175-81. [PubMed: 8082834]  [MGI Ref ID J:19656]

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Larsen M. 1966. Microphthalmia-brownish, Mi<b> Mouse News Lett 34:41.  [MGI Ref ID J:15061]

Levy C; Khaled M; Robinson KC; Veguilla RA; Chen PH; Yokoyama S; Makino E; Lu J; Larue L; Beermann F; Chin L; Bosenberg M; Song JS; Fisher DE. 2010. Lineage-specific transcriptional regulation of DICER by MITF in melanocytes. Cell 141(6):994-1005. [PubMed: 20550935]  [MGI Ref ID J:167944]

Moller A; Eysteinsson T; Steingrimsson E. 2004. Electroretinographic assessment of retinal function in microphthalmia mutant mice. Exp Eye Res 78(4):837-48. [PubMed: 15037118]  [MGI Ref ID J:88541]

Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821]  [MGI Ref ID J:29467]

Munford RE. 1965. Mutation at mi locus Mouse News Lett 33:52.  [MGI Ref ID J:83501]

Nakayama A; Nguyen MT; Chen CC; Opdecamp K; Hodgkinson CA; Arnheiter H. 1998. Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently. Mech Dev 70(1-2):155-66. [PubMed: 9510032]  [MGI Ref ID J:46130]

Novak EK; Hui SW; Swank RT. 1984. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 63(3):536-44. [PubMed: 6696991]  [MGI Ref ID J:7327]

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Pratt BM. 1982. Site of gene action of the white allele (Miwh) of the microphthalmia locus: a dermal-epidermal recombination study. J Exp Zool 220(1):93-101. [PubMed: 7042901]  [MGI Ref ID J:6764]

Qi X; Hong J; Chaves L; Zhuang Y; Chen Y; Wang D; Chabon J; Graham B; Ohmori K; Li Y; Huang H. 2013. Antagonistic regulation by the transcription factors C/EBPalpha and MITF specifies basophil and mast cell fates. Immunity 39(1):97-110. [PubMed: 23871207]  [MGI Ref ID J:208242]

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Steingrimsson E; Moore KJ; Lamoreux ML; Ferre-D'Amare AR; Burley SK; Zimring DC; Skow LC; Hodgkinson CA; Arnheiter H; Copeland NG; Jenkins NA. 1994. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences [see comments] Nat Genet 8(3):256-63. [PubMed: 7874168]  [MGI Ref ID J:21366]

Steingrimsson E; Tessarollo L; Pathak B; Hou L; Arnheiter H; Copeland NG; Jenkins NA. 2002. Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development. Proc Natl Acad Sci U S A 99(7):4477-82. [PubMed: 11930005]  [MGI Ref ID J:89821]

Wolfe HG. 1962. New allele at the mi locus (mi<sp>) Mouse News Lett 26:35.  [MGI Ref ID J:35685]

Wolfe HG; Coleman DL. 1964. Mi-spotted: a mutation in the mouse. Genet Res 5:432-440.  [MGI Ref ID J:12946]

Zanjani HS; Vogel MW; Martinou JC; Delhaye-Bouchaud N; Mariani J. 1998. Postnatal expression of Hu-bcl-2 gene in Lurcher mutant mice fails to rescue Purkinje cells but protects inferior olivary neurons from target-related cell death. J Neurosci 18(1):319-27. [PubMed: 9412510]  [MGI Ref ID J:119889]

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    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We willfulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

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At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

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Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

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    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We willfulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

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