Strain Name:

B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J

Stock Number:

000278

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 B6C3Fe-a/a-Papss2bm Hps1ep ru    (Changed: 15-DEC-04 )
B6C3Fe-a/a-Papss2bm ep ru    (Changed: 15-DEC-04 )
Type Mutant Stock; Spontaneous Mutation;
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Specieslaboratory mouse
GenerationN50

Development
The mutation brachymorphic (Papss2bm) arose spontaneously in a sibling mated line of mahogany (Atrnmg) at F12 in 1964. Mahogany had arisen on a mixed C3H Swiss background at the Jackson Laboratory. Brachymorphic was outcrossed once to C57BL/6J and then sibling mated. At F15 in 1969 a homozygous brachymorphic mouse (Papss2bm/Papss2bm) was outcrossed to a pale ear (Hps1ep) ruby (Hps6ru) homozygote. This was an F2 from a cross of a sibling mated pale ear ruby line inbred to F13 then bred with a C57BL/6J. Pale ear (Hps1ep) had arisen in C3HeB/FeJ at the Jackson Laboratory in 1959 and been backcrossed onto C57BL/6J to N6 or more. Ruby (Hps6ru) had arisen in a heterogeneous stock before 1945 and was from a multiple non-inbred recessive stock of Dr. G. D. Snell. The F1's of this cross were mated and selected F2's were mated to produce the triple homozygote with all three loci on the same chromosome. The triple homozygote in which all three loci were closely linked was crossed once to C57BL/6J and then the stock was sibling mated by forced heterozygosis to F7 before it was crossed to the B6C3Fe a/a hybrid in 1972. Backcrossing to the hybrid was continued using the cross-intercross method and the resulting strain was cryopreserved in 1995 by mating triple homozygous males at N49 to B6C3Fe a/a F1 females.

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Hps1ep allele
000050   B6.C3Fe-H51 Hps1ep /ByJ
000525   B6.C3Fe-Hps1ep/J
006930   B6.C3Fe-Hps1ep/JLlp
View Strains carrying   Hps1ep     (3 strains)

Strains carrying   Hps6ru allele
000103   B6.Cg-Hps6ru/J
006929   B6.Cg-Hps6ru/JLlp
000259   JE/LeJ
View Strains carrying   Hps6ru     (3 strains)

Strains carrying   Papss2bm allele
000205   B6C3Fe a/a-Papss2bm/J
View Strains carrying   Papss2bm     (1 strain)

Strains carrying   a allele
003879   B10;TFLe-a/a T tf/+ tf/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
000001   B6.C3 A/a Mgrn1md/J
000231   B6;C3Fe a/a-Csf1op/J
000785   B6;D2-a Es1e/EiJ
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
002807   B6C3Fe a/a-Meox2fla/J
000224   B6C3Fe a/a-Scyl1mdf/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
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
000506   B6C3Fe a/a-Qkqk/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
001750   B6C3Fe a/a-XsJ/J
000624   B6C3Fe a/a-anx/J
008044   B6C3Fe a/a-bpck/J
003020   B6C3Fe a/a-dep/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
001924   B6EiC3Sn a/A-Ts(1716)65Dn
001923   B6EiC3Sn a/A-Ts(417)2Lws TimT(4;17)3Lws/J
000225   C3FeLe.B6 a/a-Ptpn6me/J
008425   C3FeLe.B6-a Trl/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 Sisi/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
000206   STOCK a/a Tyrc-h/J
001432   STOCK a/a Tyrp1b sks/Tyrp1b +/J
000281   STOCK a/a ma Flgft/ma Flgft/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     (104 strains)

Strains carrying other alleles of Hps6
002424   B6 x C3H/HeJ-Hps6ru-6J/J
View Strains carrying other alleles of Hps6     (1 strain)

Strains carrying other alleles of a
003301   (C57BL/6J x C3H-Eya1bor)F1/J
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-Pldnpa 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
000552   B6-Aw-J-EdaTa-6J.Cg-Sxr
001730   B6-Aw-J-EdaTa-6J.Cg-Sxrb Hya-/J
000841   B6-Aw-J.CBy-EdaTa-By/J
001809   B6-Aw-J.Cg-EdaTa-6J +/+ ArTfm/J
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
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-Mutedmu/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
000065   B6C3Fe a/a-we Pax1un at/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
001752   B6CBCa Aw-J/A-T(7;15)9H/J
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
000200   C3FeB6 A/Aw-J-Ankank/J
000638   C3FeB6 A/Aw-J-Spnb4qv-J/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
View Strains carrying other alleles of a     (81 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms
Hermansky-Pudlak Syndrome; HPS - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Spondyloepimetaphyseal Dysplasia, Pakistani Type - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Storage Pool Platelet Disease - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Storage Pool Platelet Disease - 5
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
5 Conditionally targeted allele(s)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms
      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Hps1ep/Hps1ep

        either: C3HeB/FeJ or (involves: C3HeB/FeJ * C57BL/6J)
  • vision/eye phenotype
  • abnormal eye pigmentation (MGI Ref ID J:5032)
    • reduced eye pigment in the first 1-2 days after birth eyes darken with age reduced eye pigment in the first 1-2 days after birth
    • eyes darken with age
  • skin/coat/nails phenotype
  • diluted coat color (MGI Ref ID J:5032)
    • paler coat color as juveniles but becoming darker in adults
    • also light colored ears and tail
  • pigmentation phenotype
  • abnormal eye pigmentation (MGI Ref ID J:5032)
    • reduced eye pigment in the first 1-2 days after birth eyes darken with age reduced eye pigment in the first 1-2 days after birth
    • eyes darken with age
  • abnormal melanosome morphology (MGI Ref ID J:5032)
    • smaller pigment granules reported on this mixed genetic background
  • diluted coat color (MGI Ref ID J:5032)
    • paler coat color as juveniles but becoming darker in adults
    • also light colored ears and tail

Hps1ep/Hps1ep

        involves: C3HeB/FeJ * C57BL/6J
  • vision/eye phenotype
  • abnormal choroid pigmentation (MGI Ref ID J:42484)
    • abnormally large melanosomes in choroidal melanocytes
  • abnormal ciliary body pigmentation (MGI Ref ID J:6064)
    • reduced
  • abnormal retina morphology (MGI Ref ID J:6064)
    • reduced pigment in the retina and decreasing in a gradient from the periphery toward the attachment of the optic nerve
  • respiratory system phenotype
  • abnormal lung epithelium morphology (MGI Ref ID J:85431)
    • type II epithelial cells with enlarge lamellar bodies
  • hematopoietic system phenotype
  • abnormal platelet dense granule number (MGI Ref ID J:42484)
    • very few dense bodies in platelets
  • abnormal platelet physiology (MGI Ref ID J:42484)
    • abnormal platelet aggregation, lower rate
    • decreased ATP release
    • reduced secretion of stored serotonin after thrombin stimulation
    • increased secretion of lysosomal enzymes
    • decreased platelet ADP level (MGI Ref ID J:7327)
      • ADP levels reduced 2.6-6X
    • decreased platelet ATP level (MGI Ref ID J:7327)
      • ATP levels reduced 1.4-2X
    • decreased platelet serotonin level (MGI Ref ID J:7327)
      • 4.5 fold reduction in platelet serotonin
  • homeostasis/metabolism phenotype
  • abnormal circulating enzyme level (MGI Ref ID J:6219)
    • serum levels of beta glucuronidase and beta galactosidase elevated
  • abnormal platelet physiology (MGI Ref ID J:42484)
    • abnormal platelet aggregation, lower rate
    • decreased ATP release
    • reduced secretion of stored serotonin after thrombin stimulation
    • increased secretion of lysosomal enzymes
    • decreased platelet ADP level (MGI Ref ID J:7327)
      • ADP levels reduced 2.6-6X
    • decreased platelet ATP level (MGI Ref ID J:7327)
      • ATP levels reduced 1.4-2X
    • decreased platelet serotonin level (MGI Ref ID J:7327)
      • 4.5 fold reduction in platelet serotonin
  • increased bleeding time (MGI Ref ID J:7327)
  • renal/urinary system phenotype
  • abnormal kidney physiology (MGI Ref ID J:6219)
    • beta glucuronidase, beta galactosidase, and alpha mannosidase elevated in kidneys after testosterone treatment
    • abnormal kidney excretion (MGI Ref ID J:6219)
      • secretion of lysosomal enzymes in urine is decreased
  • enlarged kidney (MGI Ref ID J:6219)
    • hypertrophy as a result of testosterone treatment
  • immune system phenotype
  • abnormal macrophage physiology (MGI Ref ID J:7869)
    • several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride
    • proenzymes are secreted however
  • pigmentation phenotype
  • abnormal choroid pigmentation (MGI Ref ID J:42484)
    • abnormally large melanosomes in choroidal melanocytes
  • abnormal ciliary body pigmentation (MGI Ref ID J:6064)
    • reduced
  • abnormal melanosome morphology (MGI Ref ID J:42484)
    • melanosomes reported to be enlarged in cultured skin melanocytes on this genetic background

Hps1ep/Hps1ep

        B6.C3Fe-Hps1ep/J
  • cellular phenotype
  • abnormal lysosome physiology (MGI Ref ID J:6801)
    • significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts
    • increased lysosomal enzyme secretion (MGI Ref ID J:7327)
      • thrombin stimulation of platelets results in approximately double the normal levels of secretion of beta-glucaronidase and beta-galactosidase
  • immune system phenotype
  • abnormal NK cell physiology (MGI Ref ID J:6801)
    • lower natural killer cell activity
  • pigmentation phenotype
  • abnormal coat/hair pigmentation (MGI Ref ID J:99881)
    • display a reduction in pigmentation of the tail and ears
  • abnormal iris pigmentation (MGI Ref ID J:141035)
    • the iris is slightly dark
  • skin/coat/nails phenotype
  • abnormal coat/hair pigmentation (MGI Ref ID J:99881)
    • display a reduction in pigmentation of the tail and ears
  • hematopoietic system phenotype
  • decreased platelet ADP level (MGI Ref ID J:7327)
    • platelet ADP levels are much lower than in C57BL/6J controls
  • decreased platelet ATP level (MGI Ref ID J:7327)
    • platelet ATP levels are much lower than in C57BL/6J controls
  • decreased platelet serotonin level (MGI Ref ID J:7327)
    • 4.5 fold less platelet serotonin than in C57BL/6J control platelets
    • platelet serotonin level is also lower than that of control when fed an atherogenic diet
  • homeostasis/metabolism phenotype
  • decreased platelet ADP level (MGI Ref ID J:7327)
    • platelet ADP levels are much lower than in C57BL/6J controls
  • decreased platelet ATP level (MGI Ref ID J:7327)
    • platelet ATP levels are much lower than in C57BL/6J controls
  • decreased platelet serotonin level (MGI Ref ID J:7327)
    • 4.5 fold less platelet serotonin than in C57BL/6J control platelets
    • platelet serotonin level is also lower than that of control when fed an atherogenic diet
  • increased bleeding time (MGI Ref ID J:7327)
    • bleed time averaging over 14 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls
  • cardiovascular system phenotype
  • increased susceptibility to atherosclerosis (MGI Ref ID J:29748)
    • on an atherogenic diet homozygotes develop larger atherosclerotic lesions in the aorta than C57BL/6J controls
  • vision/eye phenotype
  • abnormal iris pigmentation (MGI Ref ID J:141035)
    • the iris is slightly dark

Hps1ep/Hps1ep

        involves: C3HeB/FeJ
  • pigmentation phenotype
  • abnormal melanosome morphology (MGI Ref ID J:80751)
    • marked increase in immature forms of melanosomes, with a shift of distribution of type IV melanosomes towards more elliptical forms

Hps6ru/Hps6ru

        B6.Cg-Hps6ru
  • hematopoietic system phenotype
  • abnormal platelet dense granule number (MGI Ref ID J:7327)
    • fewer platelet dense granules than normal
  • decreased platelet ADP level (MGI Ref ID J:7327)
    • platelet ADP levels are much lower than in C57BL/6J controls
  • decreased platelet ATP level (MGI Ref ID J:7327)
    • platelet ATP levels are much lower than in C57BL/6J controls
  • decreased platelet serotonin level (MGI Ref ID J:7327)
    • less than 7% of normal levels of platelet serotonin
    • platelet serotonin level is also lower than that of control when fed an atherogenic diet
  • homeostasis/metabolism phenotype
  • decreased platelet ADP level (MGI Ref ID J:7327)
    • platelet ADP levels are much lower than in C57BL/6J controls
  • decreased platelet ATP level (MGI Ref ID J:7327)
    • platelet ATP levels are much lower than in C57BL/6J controls
  • decreased platelet serotonin level (MGI Ref ID J:7327)
    • less than 7% of normal levels of platelet serotonin
    • platelet serotonin level is also lower than that of control when fed an atherogenic diet
  • increased bleeding time (MGI Ref ID J:7327)
    • bleed time averaging over 15 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls
  • cardiovascular system phenotype
  • decreased susceptibility to atherosclerosis (MGI Ref ID J:29748)
    • on an atherogenic diet homozygotes develop fewer aortic lesions and smaller lesions than C57BL/6J controls
    • 60% of homozygotes survive to 48 weeks of age on an atherogenic diet, when no C57BL/6J controls survive, and, although there are significant atherosclerotic lesions in these 48 week old homozygotes, the lesions are smaller than those in 39 week old C57BL/6J controls fed the atherogenic diet

Hps6ru/Hps6ru

        Background Not Specified
  • pigmentation phenotype
  • abnormal eye pigmentation (MGI Ref ID J:13122)
    • at birth the iris pigment ring is lacking and adults have ruby colored eyes
    • abnormal iris pigmentation (MGI Ref ID J:13122)
    • reduced eye pigmentation (MGI Ref ID J:13122)
  • diluted coat color (MGI Ref ID J:13122)
  • vision/eye phenotype
  • abnormal eye pigmentation (MGI Ref ID J:13122)
    • at birth the iris pigment ring is lacking and adults have ruby colored eyes
    • abnormal iris pigmentation (MGI Ref ID J:13122)
    • reduced eye pigmentation (MGI Ref ID J:13122)
  • skin/coat/nails phenotype
  • diluted coat color (MGI Ref ID J:13122)

Papss2bm/Papss2bm

        LDJ/Le
  • life span-post-weaning/aging
  • premature death (MGI Ref ID J:5109)
    • a few mutants die from malocclusion
  • craniofacial phenotype
  • cleft palate (MGI Ref ID J:15031)
    • increased sensitivity to hydrocortisone induced development of cleft palate
    • at E14 palate development was 8 to 12 hours behind normal even without experimental intervention
  • domed skull (MGI Ref ID J:5109)
    • short, domed skull
  • longitudinally short skull (MGI Ref ID J:5109)
    • skull length is 89% of normal
  • malocclusion (MGI Ref ID J:5109)
    • in some cases leads to death
  • digestive/alimentary phenotype
  • abnormal digestive system morphology (MGI Ref ID J:5109)
    • at 30 days of age the gut length was 91% of normal
    • by 60 days of age, gut length was normal
    • cleft palate (MGI Ref ID J:15031)
      • increased sensitivity to hydrocortisone induced development of cleft palate
      • at E14 palate development was 8 to 12 hours behind normal even without experimental intervention
  • growth/size phenotype
  • abnormal body weight (MGI Ref ID J:5109)
    • organ weights at 30 days of age about 70-76% normal
    • at 60 days of age organ weights varied between 78 and 140% of normal
  • decreased body length (MGI Ref ID J:5109)
    • body length is 90% of normal
  • postnatal growth retardation (MGI Ref ID J:5109)
    • retarded growth rate during first 4 weeks of life
    • eventually attain near normal body weight
    • body length about 90% normal
  • limbs/digits/tail phenotype
  • abnormal long bone epiphyseal plate morphology (MGI Ref ID J:49338)
    • abnormal long bone epiphyseal plate proliferative zone (MGI Ref ID J:5109)
      • proliferating cartilage cell columns are shorter
    • decreased long bone epiphyseal plate size (MGI Ref ID J:5109)
      • thinner epiphyseal plates
    • decreased width of hypertrophic chondrocyte zone (MGI Ref ID J:5109)
  • abnormal tail morphology (MGI Ref ID J:5109)
    • short tail (MGI Ref ID J:5109)
      • tail length is about 69% of normal
    • thick tail (MGI Ref ID J:5109)
  • decreased length of long bones (MGI Ref ID J:49338)
    • limb bones from 63 to 86% of normal length
  • skeleton phenotype
  • abnormal cancellous bone morphology (MGI Ref ID J:5109)
    • primary trabeculae are shorter, less numerous, and not aligned as well as in controls
  • abnormal long bone epiphyseal plate morphology (MGI Ref ID J:49338)
    • abnormal long bone epiphyseal plate proliferative zone (MGI Ref ID J:5109)
      • proliferating cartilage cell columns are shorter
    • decreased long bone epiphyseal plate size (MGI Ref ID J:5109)
      • thinner epiphyseal plates
    • decreased width of hypertrophic chondrocyte zone (MGI Ref ID J:5109)
  • decreased length of long bones (MGI Ref ID J:49338)
    • limb bones from 63 to 86% of normal length
  • domed skull (MGI Ref ID J:5109)
    • short, domed skull
  • longitudinally short skull (MGI Ref ID J:5109)
    • skull length is 89% of normal
  • malocclusion (MGI Ref ID J:5109)
    • in some cases leads to death

Papss2bm/Papss2bm

        B6C3Fe a/a-Papss2bm/J
  • homeostasis/metabolism phenotype
  • increased bleeding time (MGI Ref ID J:31800)
    • bleeding time is increased 2.6- to 3-fold compared to controls
    • however platelet numbers and function appear normal
View Research Applications

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

Hps1ep related

Dermatology Research
Color and White Spotting Defects

Hematological Research
Platelet Defects
      platelet storage pool deficiency

Internal/Organ Research
Kidney Defects
      lysosomal enzyme abnormalities

Hps6ru related

Dermatology Research
Color and White Spotting Defects

Hematological Research
Platelet Defects
      platelet storage pool deficiency

Internal/Organ Research
Kidney Defects
      lysosomal enzyme abnormalities

Mouse/Human Gene Homologs
Hermansky-Pudlak syndrome

Papss2bm related

Developmental Biology Research
Growth Defects
Skeletal Defects

Mouse/Human Gene Homologs
Arthritis

Genes & Alleles

Gene & Allele Information

 
Allele Symbol Hps1ep
Allele Name pale ear
Allele Type Spontaneous
Common Name(s) ep;
Strain of OriginC3HeB/FeJ
Gene Symbol and Name Hps1, Hermansky-Pudlak syndrome 1 homolog (human)
Chromosome 19
Gene Common Name(s) 6030422N11Rik; BB405864; HPS; MGC5277; RIKEN cDNA 6030422N11 gene; ep; expressed sequence BB405864; pale ear;
General Note Genbank ID for mutant allele: AF003867
Molecular Note The underlying mutation responsible for the phenotype in the pale ear mouse was identified as an insertion of an intracisternal A particle in a protein coding- 3' exon of the Hps1 gene. Northern analysis demonstrated qualitative differences in mRNA between wild-type and homozygous mutant animals. [MGI Ref ID J:42484]
 
Allele Symbol Hps6ru
Allele Name ruby-eye
Allele Type Spontaneous
Common Name(s) ru;
Strain of OriginSTOCK Si piebald
Gene Symbol and Name Hps6, Hermansky-Pudlak syndrome 6
Chromosome 19
Gene Common Name(s) 5330434M19Rik; BLOC-2; FLJ22501; Hsp6; MGC20522; MGC93064; RIKEN cDNA 5330434M19 gene; RP11-302K17.1; ru; ruby eye; ruby-eye;
General Note The ruby-eye mutation was found by Dunn (J:13122) in a silver piebald stock of Danforth. Homozygotes at birth have unpigmented eyes that later darken to a ruby color. The black pigment of the coat is diluted to a dark slate color, and the yellow pigment is diluted slightly. Ruby-eye in homozygous condition greatly reduces the number of melanocytes in the retina, ear skin, Harderian gland, nictitans (J:12970), and retinal pigment epithelium (J:6064). It has the same effect on shape and color of pigment granules as brown (Tyrpb), i.e., it makes the granules spheroidal rather than ovoid as in wild-type, and it changes the color of the granules to dark brown (J:12970). The internal structure of the pigment granules is normal (J:5346, J:5001). This mutation has several effects in common with other mutations that reduce pigmentation (see Hps1). The ruby-eye mutation causes a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus (J:6064). The kidneyconcentration of lysosomal enzymes is elevated, probably because of a low rate of excretion into the urine. Lysosomal morphology is normal (J:6422). Ruby-eye mice have a platelet storage pool deficiency characterized by prolonged bleeding time, normal platelet number, and low platelet dense granule number and dense granule serotonin content (J:7327). A platelet function component related to atherosclerosis is blocked in homozygous ruby-eye mice though not in homozygous maroon mice (Hps5ru2-mr,J:29748). The Wdt2 gene located on Chr 1, a cell autonomous suppressor of pigment dilution gene effects (J:20796), suppresses the eye color effects of mutations at Hps6 and Hps5. Coat color dilution, which Wdt2 suppresses in Myo5a, Mlph, and Rab27a dilution genotypes, is not affected in mutant Hps6 or Hps5 homozygotes, or in a number of other dilution genotypes (J:29467).
Molecular Note Sequence analysis identified an in frame deletion of codons 187, 188, and 189 encoding histidine, cysteine, and proline, respectively. [MGI Ref ID J:81444]
 
Allele Symbol Papss2bm
Allele Name brachymorphic
Allele Type Spontaneous
Common Name(s) bm;
Strain of OriginLDJ/Le-Grem1 + a/ + Atrn a
Gene Symbol and Name Papss2, 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Chromosome 19
Gene Common Name(s) 1810018P12Rik; AI159688; ATPSK2; MGC189455; RIKEN cDNA 1810018P12 gene; SK2; bm; brachymorphic; expressed sequence AI159688;
Molecular Note A point mutation resulting in a glycine to arginine substitution at the highly conserved codon 79 is predicted to be responsible for the mutant phenotype seen in the brachymorphic mouse. [MGI Ref ID J:49338] [MGI Ref ID J:50114]
 
Allele Symbol a
Allele Name nonagouti
Allele Type Spontaneous

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Genotyping resources and troubleshooting

References

References

Additional References

Zhang Q; Zhao B; Li W; Oiso N; Novak EK; Rusiniak ME; Gautam R; Chintala S; O'Brien EP; Zhang Y; Roe BA; Elliott RW; Eicher EM; Liang P; Kratz C; Legius E; Spritz RA; O'Sullivan TN; Copeland NG; Jenkins NA; Swank RT. 2003. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 33(2):145-53. [PubMed: 12548288]  [MGI Ref ID J:81444]

Hps1ep related

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]

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]

Brown JA; Novak EK; Swank RT. 1985. Effects of ammonia on processing and secretion of precursor and mature lysosomal enzyme from macrophages of normal and pale ear mice: evidence for two distinct pathways. J Cell Biol 100(6):1894-904. [PubMed: 3922995]  [MGI Ref ID J:7869]

Chiang PW; Oiso N; Gautam R; Suzuki T; Swank RT; Spritz RA. 2003. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. J Biol Chem 278(22):20332-7. [PubMed: 12663659]  [MGI Ref ID J:113973]

Clark EA; Shultz LD; Pollack SB. 1981. Mutations in mice that influence natural killer (NK) cell activity. Immunogenetics 12(5-6):601-13. [PubMed: 6971254]  [MGI Ref ID J:6485]

Feng GH; Bailin T; Oh J; Spritz RA. 1997. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum Mol Genet 6(5):793-7. [PubMed: 9158155]  [MGI Ref ID J:40195]

Feng L; Novak EK; Hartnell LM; Bonifacino JS; Collinson LM; Swank RT. 2002. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. Blood 99(5):1651-8. [PubMed: 11861280]  [MGI Ref ID J:109721]

Gardner JM; Wildenberg SC; Keiper NM; Novak EK; Rusiniak ME; Swank RT ; Puri N ; Finger JN ; Hagiwara N ; Lehman AL ; Gales TL ; Bayer ME ; King RA ; Brilliant MH. 1997. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci U S A 94(17):9238-43. [PubMed: 9256466]  [MGI Ref ID J:42484]

Guttentag SH; Akhtar A; Tao JQ; Atochina E; Rusiniak ME; Swank RT; Bates SR. 2005. Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome. Am J Respir Cell Mol Biol 33(1):14-21. [PubMed: 15790974]  [MGI Ref ID J:110954]

LaVail JH; Nixon RA; Sidman RL. 1978. Genetic control of retinal ganglion cell projections. J Comp Neurol 182(3):399-421. [PubMed: 102659]  [MGI Ref ID J:6064]

Lane PW; Green EL. 1967. Pale ear and light ear in the house mouse. Mimic mutations in linkage groups XII and XVII. J Hered 58(1):17-20. [PubMed: 6031677]  [MGI Ref ID J:5032]

Lyerla TA; Rusiniak ME; Borchers M; Jahreis G; Tan J; Ohtake P; Novak EK; Swank RT. 2003. Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome. Am J Physiol Lung Cell Mol Physiol 285(3):L643-53. [PubMed: 12777251]  [MGI Ref ID J:85431]

McGarry MP; Novak EK; Swank RT. 1986. Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency. Exp Hematol 14(4):261-5. [PubMed: 3516713]  [MGI Ref ID J:11990]

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]

Meisler MH; Wanner L; Strahler J. 1984. Pigmentation and lysosomal phenotypes in mice doubly homozygous for both light-ear and pale-ear mutant alleles. J Hered 75(2):103-6. [PubMed: 6232310]  [MGI Ref ID J:7416]

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]

Murray HW; Hariprashad J; McDermott DF; Stoeckle MY. 1996. Multiple host defense defects in failure of C57BL/6 ep/ep (pale ear) mice to resolve visceral Leishmania donovani infection. Infect Immun 64(1):161-6. [PubMed: 8557335]  [MGI Ref ID J:30323]

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]

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]

Nguyen T; Wei ML. 2007. Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development. J Invest Dermatol 127(2):421-8. [PubMed: 17068483]  [MGI Ref ID J:117715]

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; Hui SW; Swank RT. 1981. The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency. Blood 57(1):38-43. [PubMed: 7448413]  [MGI Ref ID J:6448]

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]

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]

Paigen B; Holmes PA; Novak EK; Swank RT. 1990. Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function. Arteriosclerosis 10(4):648-52. [PubMed: 2369371]  [MGI Ref ID J:29748]

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]

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]

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]

Tang X; Yamanaka S; Miyagi Y; Nagashima Y; Nakatani Y. 2005. Lung pathology of pale ear mouse (model of Hermansky-Pudlak syndrome 1) and beige mouse (model of Chediak-Higashi syndrome): severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation. Pathol Int 55(3):137-43. [PubMed: 15743322]  [MGI Ref ID J:110157]

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]

Young LR; Borchers MT; Allen HL; Gibbons RS; McCormack FX. 2006. Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome. J Immunol 176(7):4361-8. [PubMed: 16547274]  [MGI Ref ID J:129894]

Young LR; Pasula R; Gulleman PM; Deutsch GH; McCormack FX. 2007. Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis. Am J Respir Cell Mol Biol 37(1):67-74. [PubMed: 17363777]  [MGI Ref ID J:137563]

Hps6ru related

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]

Center EM; Hunter RL; Dodge AH. 1967. Effects of the luxoid gene (lu) on liver esterase isozymes of the mouse. Genetics 55(2):349-58. [PubMed: 6067640]  [MGI Ref ID J:109970]

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]

Dunn LC. 1945. A New Eye Color Mutant in the Mouse with Asymmetrical Expression. Proc Natl Acad Sci U S A 31(11):343-6. [PubMed: 16578176]  [MGI Ref ID J:13122]

Graham GJ; Ren Q; Dilks JR; Blair P; Whiteheart SW; Flaumenhaft R. 2009. Endobrevin/VAMP-8-dependent dense granule release mediates thrombus formation in vivo. Blood 114(5):1083-90. [PubMed: 19395672]  [MGI Ref ID J:151204]

Gwynn B; Martina JA; Bonifacino JS; Sviderskaya EV; Lamoreux ML; Bennett DC; Moriyama K; Huizing M; Helip-Wooley A; Gahl WA; Webb LS; Lambert AJ; Peters LL. 2004. Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood 104(10):3181-9. [PubMed: 15265785]  [MGI Ref ID J:94897]

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]

LaVail JH; Nixon RA; Sidman RL. 1978. Genetic control of retinal ganglion cell projections. J Comp Neurol 182(3):399-421. [PubMed: 102659]  [MGI Ref ID J:6064]

Markert CL; Silvers WK. 1956. The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics 41(3):429-50. [PubMed: 17247639]  [MGI Ref ID J:12970]

McGarry MP; Novak EK; Swank RT. 1986. Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency. Exp Hematol 14(4):261-5. [PubMed: 3516713]  [MGI Ref ID J:11990]

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]

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]

Nadeau JH. 2001. Modifier genes in mice and humans. Nat Rev Genet 2(3):165-74. [PubMed: 11256068]  [MGI Ref ID J:88013]

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; 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]

Oberhauser AF; Fernandez JM. 1996. A fusion pore phenotype in mast cells of the ruby-eye mouse. Proc Natl Acad Sci U S A 93(25):14349-54. [PubMed: 8962054]  [MGI Ref ID J:37255]

PIERRO LJ; CHASE HB. 1963. Slate--a new coat color mutant in the mouse. J Hered 54:47-50. [PubMed: 13943454]  [MGI Ref ID J:25388]

Paigen B; Holmes PA; Novak EK; Swank RT. 1990. Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function. Arteriosclerosis 10(4):648-52. [PubMed: 2369371]  [MGI Ref ID J:29748]

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]

So M; Imai Y. 1926. On the inheritance of ruby eye in mice Jpn J Genet 4:1-9.  [MGI Ref ID J:14915]

Xie Y; Tan EJ; Wee S; Manser E; Lim L; Koh CG. 2008. Functional interactions between phosphatase POPX2 and mDia modulate RhoA pathways. J Cell Sci 121(Pt 4):514-21. [PubMed: 18230650]  [MGI Ref ID J:138279]

Zhang Q; Zhao B; Li W; Oiso N; Novak EK; Rusiniak ME; Gautam R; Chintala S; O'Brien EP; Zhang Y; Roe BA; Elliott RW; Eicher EM; Liang P; Kratz C; Legius E; Spritz RA; O'Sullivan TN; Copeland NG; Jenkins NA; Swank RT. 2003. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 33(2):145-53. [PubMed: 12548288]  [MGI Ref ID J:81444]

Papss2bm related

Boskey AL; Maresca M; Wikstrom B; Hjerpe A. 1991. Hydroxyapatite formation in the presence of proteoglycans of reduced sulfate content: studies in the brachymorphic mouse. Calcif Tissue Int 49(6):389-93. [PubMed: 1818763]  [MGI Ref ID J:2664]

Cortes M; Baria AT; Schwartz NB. 2009. Sulfation of chondroitin sulfate proteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate. Development 136(10):1697-706. [PubMed: 19369399]  [MGI Ref ID J:148017]

Hallgrimsson B; Brown JJ; Ford-Hutchinson AF; Sheets HD; Zelditch ML; Jirik FR. 2006. The brachymorph mouse and the developmental-genetic basis for canalization and morphological integration. Evol Dev 8(1):61-73. [PubMed: 16409383]  [MGI Ref ID J:135803]

Hallgrimsson B; Lieberman DE; Liu W; Ford-Hutchinson AF; Jirik FR. 2007. Epigenetic interactions and the structure of phenotypic variation in the cranium. Evol Dev 9(1):76-91. [PubMed: 17227368]  [MGI Ref ID J:147554]

Johnson DR. 1978. The growth of femur and tibia in three genetically distinct chondrodystrophic mutants of the house mouse. J Anat 125(2):267-75. [PubMed: 624676]  [MGI Ref ID J:5934]

Kurima K; Warman ML; Krishnan S; Domowicz M; Krueger RC Jr; Deyrup A ; Schwartz NB. 1998. A member of a family of sulfate-activating enzymes causes murine brachymorphism. Proc Natl Acad Sci U S A 95(15):8681-5. [PubMed: 9671738]  [MGI Ref ID J:49338]

Lane PW; Dickie MM. 1968. Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby. J Hered 59(5):300-8. [PubMed: 5713631]  [MGI Ref ID J:5109]

Lyle S; Stanczak JD; Westley J; Schwartz NB. 1995. Sulfate-activating enzymes in normal and brachymorphic mice: evidence for a channeling defect. Biochemistry 34(3):940-5. [PubMed: 7827052]  [MGI Ref ID J:22533]

Miller WA; Flynn-Miller KL. 1976. A chondroplastic, brachymorphic and stubby chondrodystophies in mice. J Comp Pathol 86(3):349-63. [PubMed: 939824]  [MGI Ref ID J:5669]

Orkin RW; Pratt RM; Martin GR. 1976. Undersulfated chondroitin sulfate in the cartilage matrix of brachymorphic mice. Dev Biol 50(1):82-94. [PubMed: 1269836]  [MGI Ref ID J:5640]

Orkin RW; Williams BR; Cranley RE; Poppke DC; Brown KS. 1977. Defects in the cartilaginous growth plates of brachymorphic mice. J Cell Biol 73(2):287-99. [PubMed: 67117]  [MGI Ref ID J:5801]

Pennypacker JP; Kimata K; Brown KS. 1981. Brachymorphic mice (bm/bm): a generalized biochemical defect expressed primarily cartilage. Dev Biol 81(2):280-7. [PubMed: 7202842]  [MGI Ref ID J:6468]

Pratt RM; Salomon DS; Diewert VM; Erickson RP; Burns R; Brown KS. 1980. Cortisone-induced cleft palate in the brachymorphic mouse. Teratog Carcinog Mutagen 1(1):15-23. [PubMed: 6119797]  [MGI Ref ID J:15031]

Rusiniak ME; O'Brien EP; Novak EK; Barone SM; McGarry MP; Reddington M; Swank RT. 1996. Molecular markers near the mouse brachymorphic (bm) gene, which affects connective tissues and bleeding time. Mamm Genome 7(2):98-102. [PubMed: 8835524]  [MGI Ref ID J:31800]

Sugahara K; Schwartz NB. 1979. Defect in 3'-phosphoadenosine 5'-phosphosulfate formation in brachymorphic mice. Proc Natl Acad Sci U S A 76(12):6615-8. [PubMed: 230515]  [MGI Ref ID J:30996]

Vanky P; Brockstedt U; Nurminen M; Wikstrom B; Hjerpe A. 2000. Growth parameters in the epiphyseal cartilage of brachymorphic (bm/bm) mice. Calcif Tissue Int 66(5):355-62. [PubMed: 10773105]  [MGI Ref ID J:113058]

Wezeman FH; Bollnow MR. 1997. Immunohistochemical localization of fibroblast growth factor-2 in normal and brachymorphic mouse tibial growth plate and articular cartilage. Histochem J 29(6):505-14. [PubMed: 9248858]  [MGI Ref ID J:41884]

ul Haque MF; King LM; Krakow D; Cantor RM; Rusiniak ME; Swank RT ; Superti-Furga A ; Haque S ; Abbas H ; Ahmad W ; Ahmad M ; Cohn DH. 1998. Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. Nat Genet 20(2):157-62. [PubMed: 9771708]  [MGI Ref ID J:50114]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Pricing for USA, Canada and Mexico shipping destinations View International pricing
Price (US dollars $)
Cryorecovery Fee $1900.00
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.

Additional Supply Details

Pricing for International shipping destinations View USA Canada and Mexico pricing
Price (US dollars $)
Cryorecovery Fee $2470.00
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.

Additional Supply Details

Supply Details

Standard SupplyCryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
  • Cryorecovery - Standard.
    We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 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).

  • Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls
  USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
  International - 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 and Purchasing Information

      Purchasing Information
      JAX® Mice Orders
      Surgical Services

Contact Information
Orders & Technical 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

Contracts Administration

phone:207-288-6470
fax:207-288-6655

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

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. 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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