Strain Name:

B10.PA-Bloc1s6pa H3e at/SnJ

Stock Number:

000477

Order this mouse

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 B10.PA-Pldnpa H3e at/SnJ    (Changed: 20-AUG-12 )
Type Congenic; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
Background Strain C57BL/10Sn
Donor Strain B10.PA-Bloc1s6pa H3e at/Sn
GenerationN11F76p
Generation Definitions

Description
This minor histocompatibility 3 (H3e) congenic strain is also carrying the closely linked pallid mutation (Bloc1s6pa) as well as the black and tan allele of nonagouti also residing on Chromosome 2. Histocompatibility 3 is one of several loci isolated and identified by Dr. George Snell and co-workers. Histocompatibility gene differences were identified by generating congenic resistant strains and testing for resistance to transplantable tumors. Homozygous pallid mice have pink eyes, a diluted coat color and their viability is slightly reduced. Some homozygotes have slightly abnormal behavior, with abnormal postural responses and head tilting due to the absence of otoliths in the sacculus and utriculus in many but not all mutant mice. The effect of pallid on behavior and otolith morphology appears to be a result of manganese deficiency. Homozygotes display defective mucopolysaccharide synthesis in the otolith matrix and a slower rate of transport of manganese, L-dopa, and L-tryptophane in the brain. Homozygotes have elevated basal and testosterone-induced levels of the kidney lysosomal enzymes b-glucuronidase, b-galactosidase, and a-mannosidase, accompanied by lowered enzyme excretion in the urine. Pallid mice have a deficiency in serum a1-antitrypsin and have been proposed as a model of genetic a1-antitrypsin deficiency. Lung lesions similar to those seen in human emphysema are found in these mice, and are attributed, like human hereditary emphysema, to a decreased capacity to inhibit serum elastase although liver a1-antitrypsin activity is normal. Pallid mice have prolonged bleeding time due to a platelet storage pool deficiency (SPD) characterized by a normal platelet number but a deficiency in the number of platelet dense granules and in the serotonin, ATP, and ADP content of the granules. Two other mouse coat color mutants, muted (Bloc1s5mu) and mocha (Ap3d1mh), present a similar concatenation of pigment, otolith, and platelet SPD abnormalities, which also occur in human Hermansky-Pudlak syndrome.

Control Information

  Control
   000666 C57BL/10SnJ
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Bloc1s6pa allele
000024   B6.Cg-Bloc1s6pa/J
000305   B6.Cg-Fbn1Tsk +/+ Bloc1s6pa/J
View Strains carrying   Bloc1s6pa     (2 strains)

Strains carrying   at allele
000419   B10.UW-H3b we Pax1un at/SnJ
000065   B6C3Fe a/a-we Pax1un at/J
000262   LS/LeJ
View Strains carrying   at     (3 strains)

Strains carrying other alleles of H3
000433   B10.C-H3c H13? A/(28NX)SnJ
000429   B10.C-H3c/SnJ
000424   B10.KR-H3d/SnJ
000422   B10.LP-H3b H13b/(36NS)Sn
000421   B10.LP-H3b/Sn
000419   B10.UW-H3b we Pax1un at/SnJ
001286   B6.C-H3c/ByJ
View Strains carrying other alleles of H3     (7 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
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
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
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
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
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
000505   B6C3 Aw-J/A-Bloc1s5mu/J
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
003301   B6C3FeF1 a/A-Eya1bor/J
001022   B6C3FeF1/J a/a
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
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
001203   C3FeB6F1/J A/Aw-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
000338   C57BL/6J Aw-J-EdaTa-6J/J
000584   C57BL/6J-+ T(1;2)5Ca/a +/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
000670   DBA/1J
000671   DBA/2J
001057   HPT/LeJ
000260   JGBF/LeJ
002468   KK.Cg-Ay/J
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     (174 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.
Emphysema, Hereditary Pulmonary
Storage Pool Platelet Disease
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Hermansky-Pudlak Syndrome 9; HPS9   (BLOC1S6)
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.

Bloc1s6pa/Bloc1s6pa

        involves: wild-derived
  • vision/eye phenotype
  • decreased eye pigmentation
    • pink eyes   (MGI Ref ID J:13138)
  • pigmentation phenotype
  • decreased eye pigmentation
    • pink eyes   (MGI Ref ID J:13138)
  • diluted coat color
    • pale agouti   (MGI Ref ID J:13138)
  • integument phenotype
  • diluted coat color
    • pale agouti   (MGI Ref ID J:13138)

Bloc1s6pa/Bloc1s6pa

        B6.Cg-Bloc1s6pa/J
  • mortality/aging
  • premature death
    • survival beyond 16 months of age reduced to about 40%   (MGI Ref ID J:53228)
  • pigmentation phenotype
  • abnormal melanosome morphology
    • immature melanosomes found in follicular melanocytes   (MGI Ref ID J:80751)
    • increased numbers of multivesicular forms   (MGI Ref ID J:80751)
    • striated forms more frequent as well but are usually misshapen and with irregular pigment   (MGI Ref ID J:80751)
    • do not increase in size with maturation   (MGI Ref ID J:80751)
  • diluted coat color
    • display a generalized pigmented dilution   (MGI Ref ID J:99881)
  • ocular albinism
    • near total iris albinism   (MGI Ref ID J:141035)
  • respiratory system phenotype
  • abnormal lung morphology
    • "honeycomb" effect on lung architecture   (MGI Ref ID J:53228)
    • at 8 months of age loss of endothelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen   (MGI Ref ID J:4098)
    • by 12 months of age changes in lung morphology become more severe   (MGI Ref ID J:4098)
    • prior to 8 months of age no abnormalities are detected in the lung   (MGI Ref ID J:4098)
    • abnormal lung interstitium morphology
      • at 8 months of age the interstitial matrix appears disorganized due to the presence of cytoplasmic remnants in the alveolar interstitium   (MGI Ref ID J:4098)
      • at 12 months of age large lipid droplets and edema are seen in patches of the interstitium   (MGI Ref ID J:4098)
    • abnormal pulmonary alveolus morphology
      • by 16 months of age, enlarged airspaces and destruction of alveolar tissue   (MGI Ref ID J:88021)
      • cellular debris in the alveolar spaces is seen in mice at 8 months of age   (MGI Ref ID J:4098)
      • at 12 and 24 months of age some lungs show a few patchy areas of air space enlargement accompanied by alveolar septal destruction   (MGI Ref ID J:4098)
      • abnormal pulmonary alveolus epithelium morphology
        • at 8 months of age loss of epithelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen   (MGI Ref ID J:4098)
    • emphysema
      • emphysematous lesions are seen beginning at 12 months of age   (MGI Ref ID J:4098)
  • abnormal respiratory system physiology
    • lung elastin levels are significantly reduced compared to controls   (MGI Ref ID J:4098)
    • abnormal lung volume
      • lung volume is decreased at 8 months of age but increased at 12 and 28 months of age relative to age matched controls   (MGI Ref ID J:4098)
    • abnormal respiratory mechanics
      • lung reactance values decrease with age relative to controls   (MGI Ref ID J:88021)
    • emphysema
      • emphysematous lesions are seen beginning at 12 months of age   (MGI Ref ID J:4098)
    • lung inflammation
      • at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells   (MGI Ref ID J:4098)
    • pulmonary edema
      • at 12 months of age edema is seen in patches of the interstitium   (MGI Ref ID J:4098)
  • homeostasis/metabolism phenotype
  • abnormal blood homeostasis
    • serum elastase inhibitory capacity and alpha1-antitrypsin levels are significantly reduced compared to controls   (MGI Ref ID J:4098)
    • abnormal platelet activation
      • reduced serotonin release after thrombin activation   (MGI Ref ID J:7327)
      • lysosomal enzyme secretion after thrombin activation about half normal   (MGI Ref ID J:7327)
    • increased bleeding time
      • greater than 15 minutes   (MGI Ref ID J:7327)
  • abnormal urine enzyme level
    • reduced secretion of lysosomal enzymes into the urine of testosterone treated mice   (MGI Ref ID J:6219)
  • decreased platelet serotonin level
    • platetelet serotonin levels less than 1% of normal   (MGI Ref ID J:7327)
  • pulmonary edema
    • at 12 months of age edema is seen in patches of the interstitium   (MGI Ref ID J:4098)
  • renal/urinary system phenotype
  • abnormal kidney physiology
    • kidney beta-glucuronidase levels increased 2.5X   (MGI Ref ID J:6219)
    • kidney levels of beta-galactosidase and alpha-mannosidase increased   (MGI Ref ID J:6219)
    • increased rate of lysosomal enzyme synthesis in kidneys   (MGI Ref ID J:6219)
  • abnormal urine enzyme level
    • reduced secretion of lysosomal enzymes into the urine of testosterone treated mice   (MGI Ref ID J:6219)
  • behavior/neurological phenotype
  • ataxia
    • exaggerated ataxia in some mice after a swim test   (MGI Ref ID J:5215)
  • head tilt
    • seen in about 25% of homozygotes   (MGI Ref ID J:5215)
  • impaired balance
    • sometimes seen to roll over at the end of a swim test   (MGI Ref ID J:5215)
  • impaired swimming   (MGI Ref ID J:89392)
    • erratic swimming pattern in some mice with head tilt   (MGI Ref ID J:5215)
    • 55/99 mice unable to swim - related to absence of normal otoliths   (MGI Ref ID J:5215)
  • tonic seizures
    • momentary, in mice displaying head tilt when first placed in water for a swim test   (MGI Ref ID J:5215)
  • hearing/vestibular/ear phenotype
  • abnormal linear vestibular evoked potential
    • variable defects in latencies, amplitudes and thresholds of VESPs, dependent on amounts of otoconia present   (MGI Ref ID J:89392)
    • mice with absent otoconia show absent vestibular compound action potentials   (MGI Ref ID J:89392)
  • abnormal otolith morphology   (MGI Ref ID J:89392)
    • variable presence of otoliths - from normal to complete absence   (MGI Ref ID J:5215)
    • otolith development improves by maternal feeding with increased levels of manganese during early gestation   (MGI Ref ID J:5215)
  • hematopoietic system phenotype
  • abnormal NK cell physiology
    • lower natural killer cell activity   (MGI Ref ID J:6801)
  • abnormal platelet activation
    • reduced serotonin release after thrombin activation   (MGI Ref ID J:7327)
    • lysosomal enzyme secretion after thrombin activation about half normal   (MGI Ref ID J:7327)
  • abnormal platelet dense granule number
    • fewer dense granules per platelet   (MGI Ref ID J:7327)
  • decreased platelet ADP level
    • platelet ADP levels are a third to a half that of C57BL/6J controls   (MGI Ref ID J:7327)
  • decreased platelet ATP level
    • platelet ATP levels are about half that of C57BL/6J controls   (MGI Ref ID J:7327)
  • decreased platelet serotonin level
    • platetelet serotonin levels less than 1% of normal   (MGI Ref ID J:7327)
  • nervous system phenotype
  • tonic seizures
    • momentary, in mice displaying head tilt when first placed in water for a swim test   (MGI Ref ID J:5215)
  • cellular phenotype
  • abnormal lysosome physiology
    • significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts   (MGI Ref ID J:6801)
  • immune system phenotype
  • abnormal NK cell physiology
    • lower natural killer cell activity   (MGI Ref ID J:6801)
  • lung inflammation
    • at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells   (MGI Ref ID J:4098)
  • vision/eye phenotype
  • ocular albinism
    • near total iris albinism   (MGI Ref ID J:141035)
  • growth/size/body phenotype
  • increased body weight
    • at 12 months of age but not at 8 or 28 months of age   (MGI Ref ID J:4098)
  • integument phenotype
  • *normal* integument phenotype
    • electron microscopy of the skin shows regular collagen bundles and no excess collagen deposition   (MGI Ref ID J:68448)
    • diluted coat color
      • display a generalized pigmented dilution   (MGI Ref ID J:99881)

Bloc1s6pa/Bloc1s6pa

        Background Not Specified
  • other phenotype
  • maternal effect
    • homozygotes from dams fed a diet high in manganese during pregnancy do not display ataxia or the inability to orient in water   (MGI Ref ID J:5680)

The following phenotype relates to a compound genotype created using this strain.
Contact JAX® Services jaxservices@jax.org for customized breeding options.

a/a Bloc1s6pa/Bloc1s6pa

        involves: C57BL/6J
  • pigmentation phenotype
  • abnormal retinal melanin granule morphology
    • number of granules in the retina is greatly reduced   (MGI Ref ID J:5346)
    • size of granules is diminished   (MGI Ref ID J:5346)
  • vision/eye phenotype
  • abnormal retinal melanin granule morphology
    • number of granules in the retina is greatly reduced   (MGI Ref ID J:5346)
    • size of granules is diminished   (MGI Ref ID J:5346)
View Research Applications

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

Immunology, Inflammation and Autoimmunity Research
CD Antigens, Antigen Receptors, and Histocompatibility Markers

Bloc1s6pa related

Dermatology Research
Color and White Spotting Defects

Hematological Research
Platelet Defects
      platelet storage pool deficiency

Internal/Organ Research
Kidney Defects
      lysosomal enzyme abnormalities
Lung Defects
      emphysema

Neurobiology Research
Vestibular Defects

Sensorineural Research
Vestibular Defects

at related

Dermatology Research
Color and White Spotting Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Bloc1s6pa
Allele Name pallid
Allele Type Spontaneous
Common Name(s) Pldnpa; pa;
Strain of Originwild
Gene Symbol and Name Bloc1s6, biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
Chromosome 2
Gene Common Name(s) BLOC-1; BLOC-1 subunit; BLOS6; HPS9; PA; PALLID; PLDN; Pldn; pa; pallid; pallidin;
General Note Phenotypic Similarity to Human Syndrome: Hermansky-Pudlak Syndrome (J:7946)
Molecular Note The C to T substitution at nucleotide 787 introduces a premature stop codon in pallid mice. Through Northern analysis, a single mRNA of about 2.5kb was found in reduced levels compared to wild-type. [MGI Ref ID J:2185] [MGI Ref ID J:64907]
 
Allele Symbol at
Allele Name black and tan
Allele Type Spontaneous
Strain of OriginEnglish fancy stock
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 This allele is recessive to A and Aw on the dorsum and dominant to all agouti alleles on the ventrum except for Aw from which it is indistinguishable (J:78801) .
Molecular Note This allele comprises a 6 kb insertion containing a retrovirus-like transposable element VL30 and a single 526 bp repeat into the first intron of the agouti gene at the same position as for alleles a and Aw. [MGI Ref ID J:16984]
 
Gene Symbol and Name H3, histocompatibility 3
Chromosome 2
Gene Common Name(s) H-3;

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Gwynn B; Korsgren C; Cohen CM; Ciciotte SL; Peters LL. 1997. The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid. Genomics 42(3):532-5. [PubMed: 9205130]  [MGI Ref ID J:38773]

Jones SM; Erway LC; Johnson KR; Yu H; Jones TA. 2004. Gravity receptor function in mice with graded otoconial deficiencies. Hear Res 191(1-2):34-40. [PubMed: 15109702]  [MGI Ref ID J:89392]

White RA; Peters LL; Adkison LR; Korsgren C; Cohen CM; Lux SE. 1992. The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene. Nat Genet 2(1):80-3. [PubMed: 1284644]  [MGI Ref ID J:2185]

Bloc1s6pa related

Akiyama K; Chen C; Wang D; Xu X; Qu C; Yamaza T; Cai T; Chen W; Sun L; Shi S. 2012. Mesenchymal-stem-cell-induced immunoregulation involves FAS-ligand-/FAS-mediated T cell apoptosis. Cell Stem Cell 10(5):544-55. [PubMed: 22542159]  [MGI Ref ID J:185809]

Alexander JJ; Jacob A; Cunningham P; Hensley L; Quigg RJ. 2008. TNF is a key mediator of septic encephalopathy acting through its receptor, TNF receptor-1. Neurochem Int 52(3):447-56. [PubMed: 17884256]  [MGI Ref ID J:140283]

Anderson MG; Hawes NL; Trantow CM; Chang B; John SW. 2008. Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. Pigment Cell Melanoma Res 21(5):565-78. [PubMed: 18715234]  [MGI Ref ID J:141035]

Bayle J; Fitch J; Jacobsen K; Kumar R; Lafyatis R; Lemaire R. 2008. Increased expression of Wnt2 and SFRP4 in Tsk mouse skin: role of Wnt signaling in altered dermal fibrillin deposition and systemic sclerosis. J Invest Dermatol 128(4):871-81. [PubMed: 17943183]  [MGI Ref ID J:135507]

Bodmer WF. 1961. Viability effects and recombination differences in a linkage test with pallid and fidget in the house mouse Heredity 16:485-95.  [MGI Ref ID J:2]

Bossi G; Booth S; Clark R; Davis EG; Liesner R; Richards K; Starcevic M; Stinchcombe J; Trambas C; Dell'Angelica EC; Griffiths GM. 2005. Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV. Traffic 6(3):243-51. [PubMed: 15702992]  [MGI Ref ID J:105404]

Chan WT; Sherer NM; Uchil PD; Novak EK; Swank RT; Mothes W. 2008. Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis. PLoS ONE 3(7):e2713. [PubMed: 18629000]  [MGI Ref ID J:139279]

Deol MS. 1976. Deficiencies of the inner ear in the mouse and their origin Colloq Int (Collques Internationaux) C.N.R.S. 266:163-171.  [MGI Ref ID J:136112]

Dimitriu-Bona A; Fillit H. 1993. Studies of the cellular immune response to heparan sulfate proteoglycan in the tight skin mouse. Cell Immunol 150(2):321-32. [PubMed: 8370075]  [MGI Ref ID J:14526]

Erway LC; Fraser AS; Hurley LS. 1971. Prevention of congenital otolith defect in pallid mutant mice by manganese supplementation. Genetics 67(1):97-108. [PubMed: 5559839]  [MGI Ref ID J:5215]

Falcon-Perez JM; Dell'Angelica EC. 2002. The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis. Pigment Cell Res 15(2):82-6. [PubMed: 11936273]  [MGI Ref ID J:76190]

Falcon-Perez JM; Starcevic M; Gautam R; Dell'Angelica EC. 2002. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J Biol Chem 277(31):28191-9. [PubMed: 12019270]  [MGI Ref ID J:88019]

Gardi C; Cavarra E; Calzoni P; Marcolongo P; de Santi M; Martorana PA; Lungarella G. 1994. Neutrophil lysosomal dysfunctions in mutant C57 Bl/6J mice: interstrain variations in content of lysosomal elastase, cathepsin G and their inhibitors. Biochem J 299(Pt 1):237-45. [PubMed: 8166647]  [MGI Ref ID J:17583]

Gokhale A; Larimore J; Werner E; So L; Moreno-De-Luca A; Lese-Martin C; Lupashin VV; Smith Y; Faundez V. 2012. Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1. J Neurosci 32(11):3697-711. [PubMed: 22423091]  [MGI Ref ID J:183082]

Graff RJ; Simmons D; Meyer J; Martin-Morgan D; Kurtz M. 1986. Abnormal bone production associated with mutant mouse genes pa and we. J Hered 77(2):109-13. [PubMed: 3711636]  [MGI Ref ID J:8296]

Griesenbach U; Smith SN; Farley R; Singh C; Alton EW. 2008. Validation of nasal potential difference measurements in gut-corrected CF knockout mice. Am J Respir Cell Mol Biol 39(4):490-6. [PubMed: 18458238]  [MGI Ref ID J:154280]

Hearing VJ; Phillips P; Lutzner MA. 1973. The fine structure of melanogenesis in coat color mutants of the mouse. J Ultrastruct Res 43(1):88-106. [PubMed: 4634048]  [MGI Ref ID J:5346]

Huang L; Kuo YM; Gitschier J. 1999. The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. Nat Genet 23(3):329-32. [PubMed: 10610180]  [MGI Ref ID J:64907]

Hurley LS. 1976. Interaction of genes and metals in development. Fed Proc 35(11):2271-5. [PubMed: 133823]  [MGI Ref ID J:5680]

Ito S; Bartolak-Suki E; Shipley JM; Parameswaran H; Majumdar A; Suki B. 2006. Early emphysema in the tight skin and pallid mice: roles of microfibril-associated glycoproteins, collagen, and mechanical forces. Am J Respir Cell Mol Biol 34(6):688-94. [PubMed: 16439805]  [MGI Ref ID J:122617]

Jones SM; Erway LC; Johnson KR; Yu H; Jones TA. 2004. Gravity receptor function in mice with graded otoconial deficiencies. Hear Res 191(1-2):34-40. [PubMed: 15109702]  [MGI Ref ID J:89392]

Kakizoe E; Shiota N; Tanabe Y; Shimoura K; Kobayashi Y; Okunishi H. 2001. Isoform-selective upregulation of mast cell chymase in the development of skin fibrosis in scleroderma model mice. J Invest Dermatol 116(1):118-23. [PubMed: 11168806]  [MGI Ref ID J:68449]

Keil M; Lungarella G; Cavarra E; van Even P; Martorana PA. 1996. A scanning electron microscopic investigation of genetic emphysema in tight-skin, pallid, and beige mice, three different C57 BL/6J mutants. Lab Invest 74(2):353-62. [PubMed: 8780155]  [MGI Ref ID J:31735]

Larimore J; Tornieri K; Ryder PV; Gokhale A; Zlatic SA; Craige B; Lee JD; Talbot K; Pare JF; Smith Y; Faundez V. 2011. The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol Biol Cell 22(24):4854-67. [PubMed: 21998198]  [MGI Ref ID J:187545]

Lemaire R; Farina G; Bayle J; Dimarzio M; Pendergrass SA; Milano A; Whitfield ML; Lafyatis R. 2010. Antagonistic effect of the matricellular signaling protein CCN3 on TGF-beta- and Wnt-mediated fibrillinogenesis in systemic sclerosis and Marfan syndrome. J Invest Dermatol 130(6):1514-23. [PubMed: 20182440]  [MGI Ref ID J:160094]

Lemaire R; Korn JH; Schiemann WP; Lafyatis R. 2004. Fibulin-2 and fibulin-5 alterations in tsk mice associated with disorganized hypodermal elastic fibers and skin tethering. J Invest Dermatol 123(6):1063-9. [PubMed: 15610515]  [MGI Ref ID J:94185]

Lyon MF. 1953. Absence of otoliths in the mouse: An effect of the pallid mutant J Genet 51:638-50.  [MGI Ref ID J:19343]

Mantegazza AR; Guttentag SH; El-Benna J; Sasai M; Iwasaki A; Shen H; Laufer TM; Marks MS. 2012. Adaptor protein-3 in dendritic cells facilitates phagosomal toll-like receptor signaling and antigen presentation to CD4(+) T cells. Immunity 36(5):782-94. [PubMed: 22560444]  [MGI Ref ID J:187323]

Marie I; Beny JL. 2002. Endothelial dysfunction in murine model of systemic sclerosis: tight-skin mice 1. J Invest Dermatol 119(6):1379-87. [PubMed: 12485443]  [MGI Ref ID J:81020]

Martorana PA; Brand T; Gardi C; van Even P; de Santi MM; Calzoni P; Marcolongo P; Lungarella G. 1993. The pallid mouse. A model of genetic alpha 1-antitrypsin deficiency. Lab Invest 68(2):233-41. [PubMed: 8441253]  [MGI Ref ID J:4098]

Matsushita T; Fujimoto M; Hasegawa M; Matsushita Y; Komura K; Ogawa F; Watanabe R; Takehara K; Sato S. 2007. BAFF antagonist attenuates the development of skin fibrosis in tight-skin mice. J Invest Dermatol 127(12):2772-80. [PubMed: 17581616]  [MGI Ref ID J:127329]

McGaha T; Saito S; Phelps RG; Gordon R; Noben-Trauth N; Paul WE; Bona C. 2001. Lack of skin fibrosis in tight skin (TSK) mice with targeted mutation in the interleukin-4R alpha and transforming growth factor-beta genes. J Invest Dermatol 116(1):136-43. [PubMed: 11168809]  [MGI Ref ID J:68448]

McGarry MP; Borchers M; Novak EK; Lee NA; Ohtake PJ; Lee JJ; Swank RT. 2002. Pulmonary pathologies in pallid mice result from nonhematopoietic defects. Exp Mol Pathol 72(3):213-20. [PubMed: 12009785]  [MGI Ref ID J:88021]

McGarry MP; Reddington M; Novak EK; Swank RT. 1999. Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. Proc Soc Exp Biol Med 220(3):162-8. [PubMed: 10193444]  [MGI Ref ID J:53228]

Meng R; Wang Y; Yao Y; Zhang Z; Harper DC; Heijnen HF; Sitaram A; Li W; Raposo G; Weiss MJ; Poncz M; Marks MS. 2012. SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models. Blood 120(2):404-14. [PubMed: 22611153]  [MGI Ref ID J:189024]

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]

Nazarian R; Falcon-Perez JM; Dell'Angelica EC. 2003. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci U S A 100(15):8770-5. [PubMed: 12847290]  [MGI Ref ID J:99881]

Newell-Litwa K; Chintala S; Jenkins S; Pare JF; McGaha L; Smith Y; Faundez V. 2010. Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus. J Neurosci 30(3):820-31. [PubMed: 20089890]  [MGI Ref ID J:157701]

Nguyen T; Novak EK; Kermani M; Fluhr J; Peters LL; Swank RT; Wei ML. 2002. Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. J Invest Dermatol 119(5):1156-64. [PubMed: 12445206]  [MGI Ref ID J:80751]

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]

Novak EK; McGarry MP; Swank RT. 1985. Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome. Blood 66(5):1196-201. [PubMed: 3902123]  [MGI Ref ID J:8056]

Novak EK; Swank RT. 1979. Lysosomal dysfunctions associated with mutations at mouse pigment genes. Genetics 92(1):189-204. [PubMed: 115747]  [MGI Ref ID J:6219]

Ong CJ; Ip S; Teh SJ; Wong C; Jirik FR; Grusby MJ; Teh HS. 1999. A role for T helper 2 cells in mediating skin fibrosis in tight-skin mice. Cell Immunol 196(1):60-8. [PubMed: 10486156]  [MGI Ref ID J:57957]

Orn A; Hakansson EM; Gidlund M; Ramstedt U; Axberg I; Wigzell H; Lundin LG. 1982. Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity. Scand J Immunol 15(3):305-10. [PubMed: 7089489]  [MGI Ref ID J:6801]

Phelps RG; Daian C; Shibata S; Fleischmajer R; Bona CA. 1993. Induction of skin fibrosis and autoantibodies by infusion of immunocompetent cells from tight skin mice into C57BL/6 Pa/Pa mice. J Autoimmun 6(6):701-18. [PubMed: 8155252]  [MGI Ref ID J:16435]

Roberts E. 1931. A new mutation in the house mouse (Mus musculus). Science 74:569.  [MGI Ref ID J:13138]

Salazar G; Craige B; Styers ML; Newell-Litwa KA; Doucette MM; Wainer BH; Falcon-Perez JM; Dell'Angelica EC; Peden AA; Werner E; Faundez V. 2006. BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes. Mol Biol Cell 17(9):4014-26. [PubMed: 16760431]  [MGI Ref ID J:114481]

Sgonc R; Dietrich H; Sieberer C; Wick G; Christner PJ; Jimenez SA. 1999. Lack of endothelial cell apoptosis in the dermis of tight skin 1 and tight skin 2 mice. Arthritis Rheum 42(3):581-4. [PubMed: 10088787]  [MGI Ref ID J:55591]

Shrader RE; Erway LC; Hurley LS. 1973. Mucopolysaccharide synthesis in the developing inner ear of manganese-deficient and pallid mutant mice. Teratology 8(3):257-66. [PubMed: 4272079]  [MGI Ref ID J:5402]

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]

Sitaram A; Dennis MK; Chaudhuri R; De Jesus-Rojas W; Tenza D; Setty SR; Wood CS; Sviderskaya EV; Bennett DC; Raposo G; Bonifacino JS; Marks MS. 2012. Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes. Mol Biol Cell 23(16):3178-92. [PubMed: 22718909]  [MGI Ref ID J:199702]

Sullo N; Roviezzo F; Matteis M; Spaziano G; Del Gaudio S; Lombardi A; Lucattelli M; Polverino F; Lungarella G; Cirino G; Rossi F; D'Agostino B. 2013. Skeletal muscle oxidative metabolism in an animal model of pulmonary emphysema: formoterol and skeletal muscle dysfunction. Am J Respir Cell Mol Biol 48(2):198-203. [PubMed: 23144332]  [MGI Ref ID J:205093]

Swank RT; Novak EK; McGarry MP; Rusiniak ME; Feng L. 1998. Mouse models of Hermansky Pudlak syndrome: a review. Pigment Cell Res 11(2):60-80. [PubMed: 9585243]  [MGI Ref ID J:88018]

Swank RT; Novak EK; McGarry MP; Zhang Y; Li W; Zhang Q; Feng L. 2000. Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome. Pigment Cell Res 13 Suppl 8:59-67. [PubMed: 11041359]  [MGI Ref ID J:103794]

Swank RT; Reddington M; Howlett O; Novak EK. 1991. Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood 78(8):2036-44. [PubMed: 1912584]  [MGI Ref ID J:29151]

Trune DR; Lim DJ. 1983. A morphometric study of the pallid mutant mouse inner ear. Am J Otolaryngol 4(4):261-72. [PubMed: 6605096]  [MGI Ref ID J:124152]

Trune DR; Lim DJ. 1983. The behavior and vestibular nuclear morphology of otoconia-deficient pallid mutant mice. J Neurogenet 1(1):53-69. [PubMed: 6681441]  [MGI Ref ID J:7946]

Wei AH; Zang DJ; Zhang Z; Liu XZ; He X; Yang L; Wang Y; Zhou ZY; Zhang MR; Dai LL; Yang XM; Li W. 2013. Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism. J Invest Dermatol 133(7):1834-40. [PubMed: 23364476]  [MGI Ref ID J:198009]

Weihrauch D; Xu H; Shi Y; Wang J; Brien J; Jones DW; Kaul S; Komorowski RA; Csuka ME; Oldham KT; Pritchard KA. 2007. Effects of D-4F on vasodilation, oxidative stress, angiostatin, myocardial inflammation, and angiogenic potential in tight-skin mice. Am J Physiol Heart Circ Physiol 293(3):H1432-41. [PubMed: 17496220]  [MGI Ref ID J:126106]

White RA; Peters LL; Adkison LR; Korsgren C; Cohen CM; Lux SE. 1992. The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene. Nat Genet 2(1):80-3. [PubMed: 1284644]  [MGI Ref ID J:2185]

Xie T; Nguyen T; Hupe M; Wei ML. 2009. Multidrug resistance decreases with mutations of melanosomal regulatory genes. Cancer Res 69(3):992-9. [PubMed: 19155314]  [MGI Ref ID J:144973]

Yang Q; He X; Yang L; Zhou Z; Cullinane AR; Wei A; Zhang Z; Hao Z; Zhang A; He M; Feng Y; Gao X; Gahl WA; Huizing M; Li W. 2012. The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic 13(8):1160-9. [PubMed: 22554196]  [MGI Ref ID J:192646]

Yoshida M; Sakiyama S; Kenzaki K; Toba H; Uyama K; Takehisa M; Kondo K; Tangoku A. 2009. Functional evaluation of pallid mice with genetic emphysema. Lab Invest 89(7):760-8. [PubMed: 19381131]  [MGI Ref ID J:149897]

de Santi MM; Martorana PA; Cavarra E; Lungarella G. 1995. Pallid mice with genetic emphysema. Neutrophil elastase burden and elastin loss occur without alteration in the bronchoalveolar lavage cell population. Lab Invest 73(1):40-7. [PubMed: 7603039]  [MGI Ref ID J:27224]

at related

Bultman SJ; Klebig ML; Michaud EJ; Sweet HO; Davisson MT; Woychik RP. 1994. Molecular analysis of reverse mutations from nonagouti (a) to black-and-tan (a(t)) and white-bellied agouti (Aw) reveals alternative forms of agouti transcripts. Genes Dev 8(4):481-90. [PubMed: 8125260]  [MGI Ref ID J:16984]

Candille SI; Raamsdonk CD; Chen C; Kuijper S; Chen-Tsai Y; Russ A; Meijlink F; Barsh GS. 2004. Dorsoventral patterning of the mouse coat by tbx15. PLoS Biol 2(1):E3. [PubMed: 14737183]  [MGI Ref ID J:87455]

Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. [PubMed: 5798139]  [MGI Ref ID J:30922]

Dunn LC. 1928. A Fifth Allelomorph in the Agouti Series of the House Mouse. Proc Natl Acad Sci U S A 14(10):816-9. [PubMed: 16587414]  [MGI Ref ID J:15011]

Dunn LC. 1936. Studies on multiple allelomorphic series in the house mouse. I. Description of agouti and albino series of allelomorphs J Genet 33:443-53.  [MGI Ref ID J:22600]

Galbraith DB; Wolff GL; Brewer NL. 1980. Hair pigment patterns in different integumental environments of the mouse. Influence of the agouti suppressor (A<s>) mutation on expression of agouti locus alleles. J Hered 71:229-234.  [MGI Ref ID J:12033]

Hollander WF. 1973. a<t>/a Mouse News Lett 48:33.  [MGI Ref ID J:27528]

Leamy LJ; Hrubant HE. 1971. Effects of alleles at the agouti locus on odontometric traits in the C57BL-6 strain of house mice. Genetics 67(1):87-96. [PubMed: 5556294]  [MGI Ref ID J:16571]

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]

MouseBookTM. 2005. Information obtained from MouseBook<sup>TM</sup>, Medical Research Council Mammalian Genetics Unit, Harwell, UK. Unpublished :.  [MGI Ref ID J:169366]

Phillips RJS. 1966. A cis-trans position effect at the A locus of the house mouse. Genetics 54(2):485-95. [PubMed: 5968639]  [MGI Ref ID J:5027]

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]

Poole TW; Silvers WK. 1976. The development of regional pigmentation patterns in black and tan (at) mice. J Exp Zool 197(1):115-9. [PubMed: 781177]  [MGI Ref ID J:5672]

Rowlatt C; Chesterman FC; Sheriff MU. 1976. Lifespan, age changes and tumour incidence in an ageing C57BL mouse colony. Lab Anim 10(10):419-42. [PubMed: 979138]  [MGI Ref ID J:24696]

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]

Sandgren K; Larsson LT; Ekelund M; Robinsson D; Ekblad E. 1998. Functional and morphological examination of ganglionic and aganglionic distal gut from the lethal spotted mouse. Eur J Pediatr Surg 8(4):234-9. [PubMed: 9783148]  [MGI Ref ID J:113064]

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]

Summerhayes IC; Franks LM. 1979. Effects of donor age on neoplastic transformation of adult mouse bladder epithelium in vitro. J Natl Cancer Inst 62(4):1017-23. [PubMed: 107359]  [MGI Ref ID J:56454]

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]

Wolff GL. 1978. Influence of maternal phenotype on metabolic differentiation of agouti locus mutants in the mouse. Genetics 88(3):529-39. [PubMed: 640377]  [MGI Ref ID J:5964]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

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

Colony Maintenance

Diet Information LabDiet® 5K54

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 - Standard.
    Progeny testing is not required.

    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).

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 - Standard.
    Progeny testing is not required.

    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).

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
   000666 C57BL/10SnJ
 
  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.
Ordering Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use


General Terms and Conditions


Contact information

General inquiries regarding Terms of Use

Contracts Administration

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.


(6.6)