Strain Name:

STOCK a/a MitfMi-wh +/+ Itpr1opt/J

Stock Number:

000302

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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

Type Mutant Stock; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
GenerationN1
Generation Definitions

Description
Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the white allele (MitfMi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes show slight microphthalmia but a normal skeleton. Heterozygotes (MitfMi-wh/+) have a diluted coat color, light ears, a white belly spot, and in rare cases a dorsal spot. In addition, they display abnormalities of both the cochlear and vestibular portions of the inner ear. Mice homozygous for the opisthotonus spontaneous mutation (Itpr1opt) display a characteristic upward arching of head and tail. Homozygous mutant mice can be recognized at about 10 days of age by their loss of balance when standing or moving. Typical behavior of 15 to 20 day old homozygotes consists of falling over and struggling to get up. Agitation and severe opisthotonus ensue with death occuring by weaning age or before.

Control Information

  Control
   Untyped from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Itpr1opt allele
000019   B6C3Fe-a/a-Itpr1opt/J
View Strains carrying   Itpr1opt     (1 strain)

View Strains carrying   MitfMi-wh     (7 strains)

Strains carrying   a allele
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
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
014608   B6;129S1-a Kitlsl-24J/GrsrJ
000231   B6;C3Fe a/a-Csf1op/J
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
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
000019   B6C3Fe-a/a-Itpr1opt/J
001022   B6C3FeF1/J a/a
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
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
000225   C3FeLe.B6 a/a-Ptpn6me/J
000198   C3FeLe.B6-a/J
000291   C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J
001886   C3HeB/FeJLe a/a-gnd/J
000584   C57BL/6J-+ T(1;2)5Ca/a +/J
000284   CWD/LeJ
000670   DBA/1J
000671   DBA/2J
001057   HPT/LeJ
000260   JGBF/LeJ
000265   MY/HuLeJ
000308   SSL/LeJ
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
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
View Strains carrying   a     (102 strains)

Strains carrying other alleles of Itpr1
014155   FVB-Tg(Myh6/tetO-Itpr1)22.3Jmol/J
View Strains carrying other alleles of Itpr1     (1 strain)

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
000593   B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J
000502   B6 x B6CBCa Aw-J/A-Myo5aflr Gnb5flr/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
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
002016   B6(Cg)-Aw-J EdaTa-6J Chr YB6-Sxr/EiJ
000600   B6-Gpi1b x B6CBCa Aw-J/A-T(7;15)9H Gpi1a/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
001809   B6.Cg-Aw-J EdaTa-6J +/+ ArTfm/J
000552   B6.Cg-Aw-J EdaTa-6J Sxr
001730   B6.Cg-Aw-J EdaTa-6J Sxrb Hya-/J
000841   B6.Cg-Aw-J EdaTa-By/J
000021   B6.Cg-Ay/J
100409   B6129PF1/J-Aw-J/Aw
004200   B6;CBACa Aw-J/A-Npr2cn-2J/GrsrJ
000505   B6C3 Aw-J/A-Bloc1s5mu/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
000065   B6C3Fe a/a-we Pax1un at/J
003301   B6C3FeF1 a/A-Eya1bor/J
000314   B6CBACa Aw-J/A-EdaTa/J-XO
000501   B6CBACa Aw-J/A-Aifm1Hq/J
001046   B6CBACa Aw-J/A-Grid2Lc/J
000500   B6CBACa Aw-J/A-Gs/J
002703   B6CBACa Aw-J/A-Hydinhy3/J
000247   B6CBACa Aw-J/A-Kcnj6wv/J
000287   B6CBACa Aw-J/A-Plp1jp EdaTa/J
000515   B6CBACa Aw-J/A-SfnEr/J
000242   B6CBACa Aw-J/A-spc/J
000288   B6CBACa Aw-J/A-we a Mafbkr/J
001201   B6CBACaF1/J-Aw-J/A
006450   B6EiC3 a/A-Vss/GrsrJ
000557   B6EiC3-+ a/LnpUl A/J
000504   B6EiC3Sn a/A-Cacnb4lh/J
000553   B6EiC3Sn a/A-Egfrwa2 Wnt3avt/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/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
001203   C3FeB6F1/J A/Aw-J
001272   C3H/HeSnJ-Ahvy/J
000099   C3HeB/FeJ-Avy/J
000338   C57BL/6J Aw-J-EdaTa-6J/J
000258   C57BL/6J-Ai/a/J
000774   C57BL/6J-Asy/a/J
000569   C57BL/6J-Aw-J-EdaTa +/+ ArTfm/J
000051   C57BL/6J-Aw-J/J
000055   C57BL/6J-at-33J/J
000070   C57BL/6J-atd/J
002468   KK.Cg-Ay/J
000262   LS/LeJ
000283   LT.CAST-A/J
001759   STOCK A Tyrc Sha/J
001427   STOCK Aw us/J
001145   WSB/EiJ
View Strains carrying other alleles of a     (82 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Albinism, Ocular, with Sensorineural Deafness
Tietz Syndrome
Waardenburg Syndrome, Type 2A; WS2A
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Melanoma, Cutaneous Malignant, Susceptibility to, 8; CMM8   (MITF)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Itpr1opt/Itpr1opt

        involves: C57BLKS
  • mortality/aging
  • complete lethality at weaning   (MGI Ref ID J:37547)
    • mice die by weaning age or earlier   (MGI Ref ID J:13536)
    • mice die at 3-4 weeks of age   (MGI Ref ID J:28829)
  • behavior/neurological phenotype
  • abnormal locomotor behavior   (MGI Ref ID J:37547)
    • abnormal locomotor ability   (MGI Ref ID J:28829)
    • abnormal locomotor coordination
      • abnormal walking   (MGI Ref ID J:50383)
  • impaired balance
    • at 10 days of age, mice exhibit a loss of balance when standing or moving   (MGI Ref ID J:13536)
    • at 15-20 days of age, mice constantly fall over on their sides   (MGI Ref ID J:13536)
  • impaired coordination   (MGI Ref ID J:50383)
  • impaired righting response
    • at 15-20 days of age, mice struggle to right themselves   (MGI Ref ID J:13536)
  • opisthotonus
    • severe after 15-20 days of age   (MGI Ref ID J:13536)
  • seizures   (MGI Ref ID J:50383)
    • visible seizures appear by P14; range from body tremors to full tonic clonic convulsions; progressive with age   (MGI Ref ID J:37547)
    • range from subtle tremors to marked convulsions; progressive severity with age   (MGI Ref ID J:28829)
  • weakness
    • weak and sickly appearance by 7 days of age   (MGI Ref ID J:50383)
  • cellular phenotype
  • abnormal cell physiology
    • quisqualate (QA) treatment of Purkinje neurons elicited a similar calcium release as controls; repeated QA application showed a less attenuated response in mutant cells than in controls   (MGI Ref ID J:50383)
  • growth/size/body phenotype
  • decreased body size   (MGI Ref ID J:37547)
    • reported as smaller than littermates   (MGI Ref ID J:28829)
  • muscle phenotype
  • opisthotonus
    • severe after 15-20 days of age   (MGI Ref ID J:13536)
  • nervous system phenotype
  • *normal* nervous system phenotype
    • normal cerebellum morphology; normal numbers and morphology of Purkinje cells   (MGI Ref ID J:50383)
    • gross anatomy of the cerebellum appears normal   (MGI Ref ID J:13536)
    • seizures   (MGI Ref ID J:50383)
      • visible seizures appear by P14; range from body tremors to full tonic clonic convulsions; progressive with age   (MGI Ref ID J:37547)
      • range from subtle tremors to marked convulsions; progressive severity with age   (MGI Ref ID J:28829)

MitfMi-wh/Mitf+

        involves: C57BL * DBA
  • pigmentation phenotype
  • abnormal foot pigmentation
    • reduced foot pigmentation   (MGI Ref ID J:13058)
  • abnormal iris pigmentation
    • moderate dilution of the iris pigmentation   (MGI Ref ID J:125080)
  • decreased eye pigmentation
    • eyes are a very dark ruby color   (MGI Ref ID J:13058)
  • decreased tail pigmentation
    • reduced tail pigmentation   (MGI Ref ID J:13058)
  • diluted coat color   (MGI Ref ID J:125080)
    • coat color is gray and somewhat lighter than that of Myo5ad homozygotes   (MGI Ref ID J:13058)
    • coat color darkens slightly with age   (MGI Ref ID J:13058)
  • white spotting
    • small spots may occur on the back, but spotting is not found on the head   (MGI Ref ID J:125080)
  • limbs/digits/tail phenotype
  • decreased tail pigmentation
    • reduced tail pigmentation   (MGI Ref ID J:13058)
  • vision/eye phenotype
  • abnormal iris pigmentation
    • moderate dilution of the iris pigmentation   (MGI Ref ID J:125080)
  • decreased eye pigmentation
    • eyes are a very dark ruby color   (MGI Ref ID J:13058)
  • integument phenotype
  • abnormal foot pigmentation
    • reduced foot pigmentation   (MGI Ref ID J:13058)
  • decreased tail pigmentation
    • reduced tail pigmentation   (MGI Ref ID J:13058)
  • diluted coat color   (MGI Ref ID J:125080)
    • coat color is gray and somewhat lighter than that of Myo5ad homozygotes   (MGI Ref ID J:13058)
    • coat color darkens slightly with age   (MGI Ref ID J:13058)
  • white spotting
    • small spots may occur on the back, but spotting is not found on the head   (MGI Ref ID J:125080)

MitfMi-wh/MitfMi-wh

        involves: C57BL * DBA
  • pigmentation phenotype
  • absent coat pigmentation
    • coat color is indistinguishable from that of Tyrc homozygotes   (MGI Ref ID J:13058)
    • the coat is entirely lacking pigment   (MGI Ref ID J:125080)
  • decreased eye pigmentation
    • little or no pigment in the iris   (MGI Ref ID J:125080)
  • ocular albinism
    • eyes are pink and pigmentless   (MGI Ref ID J:13058)
  • vision/eye phenotype
  • decreased eye pigmentation
    • little or no pigment in the iris   (MGI Ref ID J:125080)
  • microphthalmia
    • eye size appears reduced compared to f Tyrc homozygotes   (MGI Ref ID J:13058)
    • the eyes are only mildly reduced in size   (MGI Ref ID J:125080)
  • ocular albinism
    • eyes are pink and pigmentless   (MGI Ref ID J:13058)
  • growth/size/body phenotype
  • decreased body size
    • reduced body size compared to f Tyrc homozygotes   (MGI Ref ID J:13058)
  • reproductive system phenotype
  • decreased litter size
    • litter size is reduced in homozygous female to homozygous male crosses   (MGI Ref ID J:13058)
  • reduced fertility   (MGI Ref ID J:125080)
  • hearing/vestibular/ear phenotype
  • abnormal cochlea morphology
    • no section of the cochlear duct was ever found to be normal   (MGI Ref ID J:125080)
    • abnormal cochlear hair cell morphology   (MGI Ref ID J:125080)
    • abnormal stria vascularis morphology
      • abnormal in its entirety   (MGI Ref ID J:125080)
  • abnormal vestibular saccule morphology
    • the majority of ears show dedifferentiation and cellular migrations in the cochlear duct and the saccule   (MGI Ref ID J:125080)
  • nervous system phenotype
  • abnormal cochlear hair cell morphology   (MGI Ref ID J:125080)
  • integument phenotype
  • absent coat pigmentation
    • coat color is indistinguishable from that of Tyrc homozygotes   (MGI Ref ID J:13058)
    • the coat is entirely lacking pigment   (MGI Ref ID J:125080)

MitfMi-wh/MitfMi-wh

        B6.Cg-MitfMi-wh
  • pigmentation phenotype
  • abnormal retinal pigment epithelium morphology
    • pigment granules are absent at E11   (MGI Ref ID J:5046)
    • at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region   (MGI Ref ID J:5046)
    • after E12 in some area the cells are columnar rather than cuboidal   (MGI Ref ID J:5046)
    • at all stages the number of mitoses is increased compared to control pigment layers   (MGI Ref ID J:5046)
    • abnormal retinal pigmentation
      • pigment granules are absent from the pigment layer at E11   (MGI Ref ID J:5046)
      • after E12, a few pigment granules may be found in the front edge of the pigment layer   (MGI Ref ID J:5046)
      • at birth a few pigment granules are present near the iris   (MGI Ref ID J:5046)
  • vision/eye phenotype
  • abnormal optic choroid morphology
    • at birth the choroid fissure is irregularly closed in the anterior eye and open from the posterior part of the lens to the rear of the optic cup   (MGI Ref ID J:5046)
    • in newborns the retinal eversion remains obvious in the unclosed portions of the choroid fissure   (MGI Ref ID J:5046)
  • abnormal optic cup morphology
    • slightly reduced in size from E13 onwards   (MGI Ref ID J:5046)
    • irregularly formed surrounding less than half of the spherical lens   (MGI Ref ID J:5046)
  • abnormal optic fissure closure
    • at E12 the choroid fissure is mostly closed but the joining of the retinal nervous layer is not smooth and a large retinal eversion is present at the rear of the optic cup where the fissure fails to close   (MGI Ref ID J:5046)
    • in newborns the retinal eversion remains obvious in the unclosed portions of the choroid fissure   (MGI Ref ID J:5046)
  • abnormal optic stalk morphology
    • slight increase in diameter at E11   (MGI Ref ID J:5046)
    • shorter and somewhat greater in diameter at E11.5 and E12   (MGI Ref ID J:5046)
  • abnormal posterior eye segment morphology
    • the lens fills the space normally occupied by the vitreous body   (MGI Ref ID J:5046)
    • abnormal retinal neuronal layer morphology
      • at birth, the layers are less clearly defined   (MGI Ref ID J:5046)
    • abnormal retinal pigment epithelium morphology
      • pigment granules are absent at E11   (MGI Ref ID J:5046)
      • at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region   (MGI Ref ID J:5046)
      • after E12 in some area the cells are columnar rather than cuboidal   (MGI Ref ID J:5046)
      • at all stages the number of mitoses is increased compared to control pigment layers   (MGI Ref ID J:5046)
      • abnormal retinal pigmentation
        • pigment granules are absent from the pigment layer at E11   (MGI Ref ID J:5046)
        • after E12, a few pigment granules may be found in the front edge of the pigment layer   (MGI Ref ID J:5046)
        • at birth a few pigment granules are present near the iris   (MGI Ref ID J:5046)
  • microphthalmia
    • slightly smaller at birth   (MGI Ref ID J:5046)
  • skeleton phenotype
  • *normal* skeleton phenotype
    • unlike MitfMi homozygotes no skeletal abnormalities are seen   (MGI Ref ID J:5046)
  • homeostasis/metabolism phenotype
  • decreased bleeding time
    • bleed time of only 1 minute after tail nick is significantly less than the 3.8 minutes in C57BL/6J controls   (MGI Ref ID J:7327)

MitfMi-wh/MitfMi-wh

        involves: C57BL * C57BL/6J * DBA
  • pigmentation phenotype
  • absent coat pigmentation
    • white coat   (MGI Ref ID J:89821)
  • decreased eye pigmentation
    • eyes are slightly pigmented   (MGI Ref ID J:89821)
  • skeleton phenotype
  • *normal* skeleton phenotype
    • normal bone development and mice do not develop osteopetrosis   (MGI Ref ID J:89821)
  • vision/eye phenotype
  • decreased eye pigmentation
    • eyes are slightly pigmented   (MGI Ref ID J:89821)
  • microphthalmia   (MGI Ref ID J:89821)
  • integument phenotype
  • absent coat pigmentation
    • white coat   (MGI Ref ID J:89821)
View Research Applications

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

Itpr1opt related

Neurobiology Research
Epilepsy
Metabolic Defects
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MitfMi-wh related

Dermatology Research
Color and White Spotting Defects

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Hearing Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Itpr1opt
Allele Name opisthotonus
Allele Type Spontaneous
Common Name(s) Itpr-1opt;
Strain of OriginC57BLKS-Lepr
Gene Symbol and Name Itpr1, inositol 1,4,5-trisphosphate receptor 1
Chromosome 6
Gene Common Name(s) ACV; CLA4; D6Pas2; DNA segment, Chr 6, Pasteur Institute 2; I145TR; INSP3R1; IP3R; IP3R1; InsP3R; InsP3R type I; Ip3r; Itpr-1; P400; PPP1R94; Pcp-1; Pcp1; Purkinje cell protein 1; SCA15; SCA16; SCA29; inositol 1,4,5-triphosphate binding protein; opisthotonus; opt;
Molecular Note The molecular defect underlying the phenotype in the opisthotonus mouse involves a genomic deletion that alters the Itpr1 protein. The genomic deletion removes the first two exons from the mRNA, but does not disrupt the translational reading frame. The protein is reduced in expression and is predicted to have lost several modulatory sites. [MGI Ref ID J:37547]
 
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]
 
Allele Symbol a
Allele Name nonagouti
Allele Type Spontaneous
Strain of Originold mutant of the mouse fancy
Gene Symbol and Name a, nonagouti
Chromosome 2
Gene Common Name(s) AGSW; AGTI; AGTIL; ASP; As; SHEP9; agouti; agouti signal protein; agouti suppressor;
General Note Phenotypic Similarity to Human Syndrome: Metabolic Syndrome in mice homozygous for Apoetm1Unc and heterozygous for Ay and a (J:177084)
Molecular Note Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats. The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type. [MGI Ref ID J:16984] [MGI Ref ID J:24934]

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References

References provided by MGI

Additional References

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Itpr1opt related

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a related

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Miller MW; Duhl DM; Vrieling H; Cordes SP; Ollmann MM; Winkes BM; Barsh GS. 1993. Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation. Genes Dev 7(3):454-67. [PubMed: 8449404]  [MGI Ref ID J:4186]

Miyazaki M; Sampath H; Liu X; Flowers MT; Chu K; Dobrzyn A; Ntambi JM. 2009. Stearoyl-CoA desaturase-1 deficiency attenuates obesity and insulin resistance in leptin-resistant obese mice. Biochem Biophys Res Commun 380(4):818-22. [PubMed: 19338759]  [MGI Ref ID J:147343]

Monroe DG; Wipf LP; Diggins MR; Matthees DP; Granholm NH. 1998. Agouti-related maturation and tissue distribution of alpha-Melanocyte Stimulating Hormone in wild-type (AwJ/AwJ) and mutant (Ay/a,a/a) mice. Pigment Cell Res 11(5):310-3. [PubMed: 9877102]  [MGI Ref ID J:52183]

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]

Moyer FH. 1966. Genetic variations in the fine structure and ontogeny of mouse melanin granules. Am Zool 6(1):43-66. [PubMed: 5902512]  [MGI Ref ID J:5001]

Novak EK; Gautam R; Reddington M; Collinson LM; Copeland NG; Jenkins NA; McGarry MP; Swank RT. 2002. The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background. Blood 100(1):128-35. [PubMed: 12070017]  [MGI Ref ID J:77395]

Novak EK; Wieland F; Jahreis GP; Swank RT. 1980. Altered secretion of kidney lysosomal enzymes in the mouse pigment mutants ruby-eye, ruby-eye-2-J, and maroon. Biochem Genet 18(5-6):549-61. [PubMed: 6776948]  [MGI Ref ID J:6422]

Nuotio-Antar AM; Hachey DL; Hasty AH. 2007. Carbenoxolone treatment attenuates symptoms of metabolic syndrome and atherogenesis in obese, hyperlipidemic mice. Am J Physiol Endocrinol Metab 293(6):E1517-28. [PubMed: 17878220]  [MGI Ref ID J:145108]

Papacleovoulou G; Abu-Hayyeh S; Nikolopoulou E; Briz O; Owen BM; Nikolova V; Ovadia C; Huang X; Vaarasmaki M; Baumann M; Jansen E; Albrecht C; Jarvelin MR; Marin JJ; Knisely AS; Williamson C. 2013. Maternal cholestasis during pregnancy programs metabolic disease in offspring. J Clin Invest 123(7):3172-81. [PubMed: 23934127]  [MGI Ref ID J:201610]

Pettitt SJ; Liang Q; Rairdan XY; Moran JL; Prosser HM; Beier DR; Lloyd KC; Bradley A; Skarnes WC. 2009. Agouti C57BL/6N embryonic stem cells for mouse genetic resources. Nat Methods :. [PubMed: 19525957]  [MGI Ref ID J:149352]

Poole TW. 1975. Dermal-epidermal interactions and the action of alleles at the agouti locus in the mouse. Dev Biol 42(2):203-10. [PubMed: 1090472]  [MGI Ref ID J:5519]

Poole TW. 1982. The agouti suppressor (As) coat color mutation in mice: developmental effects on the expression of agouti locus alleles. J Exp Zool 220(1):57-64. [PubMed: 7077265]  [MGI Ref ID J:6763]

Quevedo WC Jr.; Chase HB. 1958. An analysis of the light mutation of coat color in mice. J Morphol 102:329-345.  [MGI Ref ID J:13094]

Quevedo WC Jr; Holstein TJ. 1992. The shift from physiological genetics to molecular genetics in the study of mouse tyrosinase. Pigment Cell Res Suppl 2:57-60. [PubMed: 1409439]  [MGI Ref ID J:3852]

RUSSELL ES. 1949. A quantitative histological study of the pigment found in the coat-color mutants of the house mouse; interdependence among the variable granule attributes. Genetics 34(2):133-45. [PubMed: 18117146]  [MGI Ref ID J:148461]

Rakyan VK; Chong S; Champ ME; Cuthbert PC; Morgan HD; Luu KV; Whitelaw E. 2003. Transgenerational inheritance of epigenetic states at the murine Axin(Fu) allele occurs after maternal and paternal transmission. Proc Natl Acad Sci U S A 100(5):2538-43. [PubMed: 12601169]  [MGI Ref ID J:82396]

Rice RH; Bradshaw KM; Durbin-Johnson BP; Rocke DM; Eigenheer RA; Phinney BS; Sundberg JP. 2012. Differentiating inbred mouse strains from each other and those with single gene mutations using hair proteomics. PLoS One 7(12):e51956. [PubMed: 23251662]  [MGI Ref ID J:195664]

Rosenfeld CS; Sieli PT; Warzak DA; Ellersieck MR; Pennington KA; Roberts RM. 2013. Maternal exposure to bisphenol A and genistein has minimal effect on A(vy)/a offspring coat color but favors birth of agouti over nonagouti mice. Proc Natl Acad Sci U S A 110(2):537-42. [PubMed: 23267115]  [MGI Ref ID J:193279]

Russell ES. 1948. A Quantitative Histological Study of the Pigment Found in the Coat Color Mutants of the House Mouse. II. Estimates of the Total Volume of Pigment. Genetics 33(3):228-36. [PubMed: 17247280]  [MGI Ref ID J:148462]

Russell ES. 1946. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. I. Variable Attributes of the Pigment Granules. Genetics 31(3):327-46. [PubMed: 17247200]  [MGI Ref ID J:148463]

Russell ES. 1949. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. IV. the Nature of the Effects of Genic Substitution in Five Major Allelic Series. Genetics 34(2):146-66. [PubMed: 17247308]  [MGI Ref ID J:12958]

Russell LB. 1964. Genetic and Functional Mosaicism in the Mouse. In: The Role of the Chromosomes in Development. Academic Press, New York.  [MGI Ref ID J:29504]

Russell LB; Cupp McDaniel MN; Woodiel FN,. 1963. Crossing over within the a "locus" of the mouse Genetics 48:907 Abstr.  [MGI Ref ID J:174047]

SILVERS WK. 1958. An experimental approach to action of genes at the agouti locus in the mouse. III. Transplants of newborn Aw-, A-and at-skin to Ay-, Aw-, A-and aa hosts. J Exp Zool 137(1):189-96. [PubMed: 13563791]  [MGI Ref ID J:13013]

Sakurai T; Ochiai H; Takeuchi T. 1975. Ultrastructural change of melanosomes associated with agouti pattern formation in mouse hair. Dev Biol 47(2):466-71. [PubMed: 1204945]  [MGI Ref ID J:5606]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

Soeller WC; Janson J; Hart SE; Parker JC; Carty MD; Stevenson RW; Kreutter DK; Butler PC. 1998. Islet amyloid-associated diabetes in obese A(vy)/a mice expressing human islet amyloid polypeptide. Diabetes 47(5):743-50. [PubMed: 9588445]  [MGI Ref ID J:133694]

Staats J. 1985. Standardized Nomenclature for Inbred Strains of Mice: eighth listing. Cancer Res 45(3):945-77. [PubMed: 3971387]  [MGI Ref ID J:50296]

Suto J. 2008. Coincidence of loci for glucosuria and obesity in type 2 diabetes-prone KK-Ay mice. Med Sci Monit 14(2):CR65-74. [PubMed: 18227763]  [MGI Ref ID J:131439]

Suto J. 2009. Identification of multiple quantitative trait loci affecting the size and shape of the mandible in mice. Mamm Genome 20(1):1-13. [PubMed: 19067046]  [MGI Ref ID J:143893]

Suto J; Matsuura S; Imamura K; Yamanaka H; Sekikawa K. 1998. Genetics of obesity in KK mouse and effects of A(y) allele on quantitative regulation. Mamm Genome 9(7):506-10. [PubMed: 9657845]  [MGI Ref ID J:48704]

Suwa A; Yoshino M; Yamazaki C; Naitou M; Fujikawa R; Matsumoto S; Kurama T; Shimokawa T; Aramori I. 2010. RMI1 deficiency in mice protects from diet and genetic-induced obesity. FEBS J 277(3):677-86. [PubMed: 20050919]  [MGI Ref ID J:168271]

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Tanaka S; Kuwahara S; Nishijima K; Ohno T; Matsuzawa A. 2006. Genetic association of mutation at agouti locus with adrenal x zone morphology in BALB/c mice. Exp Anim 55(4):343-7. [PubMed: 16880681]  [MGI Ref ID J:111619]

Tanaka S; Nishimura M; Matsuzawa A. 1994. Genetic association between agouti locus and adrenal X zone morphology in SM/J mice. Acta Anat (Basel) 149(3):170-3. [PubMed: 7976166]  [MGI Ref ID J:19308]

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Vrieling H; Duhl DM; Millar SE; Miller KA; Barsh GS. 1994. Differences in dorsal and ventral pigmentation result from regional expression of the mouse agouti gene. Proc Natl Acad Sci U S A 91(12):5667-71. [PubMed: 8202545]  [MGI Ref ID J:18750]

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Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3300.00
Animals Provided

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

Standard Supply

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

Supply Notes

  • Cryorecovery of Strains Needing Progeny Testing
    At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 10 and 14 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny testing at your facility. If you perform the progeny testing, there is no guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation.
    Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation.

    Please contact Customer Service for more information on the cost of progeny testing for a strain, tel: 1-800-422-6423 or 1-207-288-5845 (from any location). The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

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

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4290.00
Animals Provided

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

Standard Supply

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

Supply Notes

  • Cryorecovery of Strains Needing Progeny Testing
    At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 10 and 14 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny testing at your facility. If you perform the progeny testing, there is no guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation.
    Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation.

    Please contact Customer Service for more information on the cost of progeny testing for a strain, tel: 1-800-422-6423 or 1-207-288-5845 (from any location). 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).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

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

Control Information

  Control
   Untyped from the colony
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.


See Terms of Use tab for General Terms and Conditions


The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
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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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