Strain Name:

B6CBACa Aw-J/A-SfnEr/J

Stock Number:

000515

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 B6CBACa Aw-J/A-Er/J    (Changed: 30-NOV-05 )
Type Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse
GenerationN3F1N1
Generation Definitions

Description
This mutation shows complete penetrance in heterozygotes. These mice grow a normal appearing but probably somewhat dry first coat until the age of about 13 days; then hair loss begins and continues until the fur becomes sparse. Repeated growth and re-epilation follow without a definite pattern. Heterozygotes are slightly reduced in size and some may die before weaning, but adults are fully viable and fertile. Homozygotes die at birth from inability to breathe because of a closed oral cavity. At embryonic day 17 the skin of homozygotes is extremely thin and smooth with few vibrissae and hair follicles. The snout is truncated and the mouth closed. The limbs and tail are greatly shortened and held close to the trunk and the anal and urogenital orifices are closed. There are marked skeletal abnormalities and cleft palate. Homozygotes can be recognized at 13 days of gestation by their blunt limbs and stumpy tail. Between 13 and 15 days the nares and oral opening close, resulting in marked compression and abnormality of the structures in the area. Heterozygotes are recognizable at 18 days of gestation by edema of the feet and hemorrhagic tail tip. Histologically, at 19 days of gestation, skin of heterozygotes does not differ from +/+ skin. Skin of homozygotes is characterized by wide intercellular spaces and highly variable numbers and distribution of cells of the spinous, granular, and superficial layers. A 26.5 kDa protein, filaggrin, is absent, but filaggrin precursors appear to be present. In heterozygotes there is a high incidence of multiple cutaneous papillomas and squamous cell carcinomas.

Development
The repeated epilation mutation arose in a random bred stock at Oak Ridge National Laboratory in approximately 1960 and was subsequently imported into The Jackson Laboratory for Dr. George Snell. Dr. Snell passed this mutation to Dr. Don Bailey who maintained this dominant mutation by continuous backcrossing to C57BL/6By. Dr. Bailey later transferred this congenic strain to Dr. Eva Eicher and in 1983 the breeding scheme changed to crossing a heterozygote to a (C57BL/6J-Aw-J/J x CBA/CaGnLeJ)F1 hybrid at each generation. In 1984 embryos were generated for cryopreservation from C57BL/6J females bred with B6CBACa Aw-J/A-SfnEr/J heterozygous males at generation N3F1.

Related Strains

Facebase: models
007664   129S-Efnb1tm1Sor/J
000646   A/J
000647   A/WySnJ
005709   B6.129-Skitm1Cco/J
002619   B6.129-Tgfb3tm1Doe/J
007453   B6.129P2(Cg)-Dhcr7tm1Gst/J
010525   B6.129S-Notch2tm3Grid/J
010616   B6.129S1-Jag1tm1Grid/J
010546   B6.129S1-Jag2tm1Grid/J
010620   B6.129S1-Notch2tm1Grid/J
009387   B6.129S1-Osr1tm1Jian/J
009386   B6.129S1-Osr2tm1Jian/J
010621   B6.129S1-Snai1tm2.1Grid/J
010617   B6.129S1-Snai2tm1Grid/J
003865   B6.129S2-Itgavtm1Hyn/J
003755   B6.129S4-Meox2tm1(cre)Sor/J
016902   B6.129S5-Irf6Gt(OST398253)Lex/J
003336   B6.129S7-Cdkn1ctm1Sje/J
012843   B6.129X1(Cg)-Slc32a1tm1.1Bgc/J
000026   B6.C3-Gli3Xt-J/J
004275   B6.Cg-Fignfi/Frk
012844   B6.Cg-Gad1tm1.1Bgc/J
006382   B6;129-Casktm1Sud/J
002711   B6;129-Gabrb3tm1Geh/J
004293   B6;129-Shhtm2Amc/J
012603   B6;129-Tgfbr2tm1Karl/J
010618   B6;129S-Jag1tm2Grid/J
010686   B6;129S-Snai1tm2Grid/J
009389   B6;129S1-Bambitm1Jian/J
010619   B6;129S1-Lfngtm1Grid/J
010547   B6;129S1-Notch3tm1Grid/J
010544   B6;129S1-Notch4tm1Grid/J
010722   B6;129S1-Snai2tm2Grid/J
012463   B6;129S4-Foxd1tm1(GFP/cre)Amc/J
003277   B6;129S7-Acvr2atm1Zuk/J
002788   B6;129S7-Fsttm1Zuk/J
002990   B6;129S7-Inhbatm1Zuk/J
000523   B6By.Cg-Eh/J
000278   B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J
001434   C3HeB/FeJ x STX/Le-Mc1rE-so Gli3Xt-J Zeb1Tw/J
000252   DC/LeJ
005057   FVB.129-Kcnj2tm1Swz/J
012655   FVB.A-Irf6clft1/BeiJ
013100   FVB.C-Prdm16csp1/J
017437   FVB/N-Ckap5TgTn(sb-cHS4,Tyr)2320F-1Ove/J
017438   FVB/N-MidnTg(Tyr)2261EOve/J
017609   FVB/N-Rr16Tn(sb-Tyr)1HCebOve/J
017598   FVB/N-Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove/J
017608   FVB/N-Skor2Tn(sb-Tyr)1799B.CA7BOve/J
017436   FVB/N-Tapt1TgTn(sb-cHS4,Tyr)2508GOve/J
016870   FVB/NJ-Ap2b1Tg(Tyr)427Ove/EtevJ
017434   FVB;B6-Cramp1lTgTn(sb-rtTA,Tyr)2447AOve/J
017594   FVB;B6-Eya4TgTn(Prm1-sb10,sb-Tyr)1739AOve/J
017435   FVB;B6-SlmapTn(sb-rtTA)2426B.SB4Ove/J
003318   STOCK Shhtm1Amc/J
003102   STOCK Tgfb2tm1Doe/J
018624   STOCK Tgfb3tm2(Tgfb1)Vk/J
008469   STOCK Wnt9btm1.2Amc/J
View Facebase: models     (58 strains)

View Strains carrying   Aw-J     (30 strains)

Strains carrying other alleles of a
002655   Mus pahari/EiJ
000251   AEJ.Cg-ae +/a Gdf5bp-H/J
000202   AEJ/Gn-bd/J
000199   AEJ/GnLeJ
000433   B10.C-H3c H13? A/(28NX)SnJ
000427   B10.CE-H13b Aw/(30NX)SnJ
000423   B10.KR-H13? A/SnJ
000420   B10.LP-H13b Aw/Sn
000477   B10.PA-Bloc1s6pa H3e at/SnJ
000419   B10.UW-H3b we Pax1un at/SnJ
003879   B10;TFLe-a/a T Itpr3tf/+ Itpr3tf/J
001538   B6 x B6C3Sn a/A-T(1;9)27H/J
000916   B6 x B6C3Sn a/A-T(5;12)31H/J
000602   B6 x B6C3Sn a/A-T(8;16)17H/J
002083   B6 x B6EiC3 a/A-T(7;16)235Dn/J
000507   B6 x B6EiC3 a/A-Otcspf/J
003759   B6 x B6EiC3Sn a/A-T(10;16)232Dn/J
002071   B6 x B6EiC3Sn a/A-T(11;17)202Dn/J
002113   B6 x B6EiC3Sn a/A-T(11A2;16B3)238Dn/J
002068   B6 x B6EiC3Sn a/A-T(11B1;16B5)233Dn/J
002069   B6 x B6EiC3Sn a/A-T(14E4or5;16B5)225Dn/J
001926   B6 x B6EiC3Sn a/A-T(15;16)198Dn/J
001832   B6 x B6EiC3Sn a/A-T(15E;16B1)60Dn/J
003758   B6 x B6EiC3Sn a/A-T(16C3-4;17A2)65Dn/J
001833   B6 x B6EiC3Sn a/A-T(1C2;16C3)45Dn/J
001903   B6 x B6EiC3Sn a/A-T(6F;18C)57Dn/J
001535   B6 x B6EiC3Sn a/A-T(8A4;12D1)69Dn/J
001831   B6 x B6EiC3Sn a/A-T(8C3;16B5)164Dn/J
000618   B6 x FSB/GnEi a/a Ctslfs/J
000577   B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
000601   B6 x STOCK a/a T(7;18)50H/J
000592   B6 x STOCK T(2;4)13H a/J
000769   B6.C/(HZ18)By-at-44J/J
000203   B6.C3-Aiy/a/J
000017   B6.C3-Avy/J
001572   B6.C3-am-J/J
000628   B6.CE-A Amy1b Amy2a5b/J
000021   B6.Cg-Ay/J
014608   B6;129S1-a Kitlsl-24J/GrsrJ
000231   B6;C3Fe a/a-Csf1op/J
004200   B6;CBACa Aw-J/A-Npr2cn-2J/GrsrJ
000785   B6;D2-a Ces1ce/EiJ
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
001750   B6C3Fe a/a-Eif3cXs-J/J
002807   B6C3Fe a/a-Meox2fla/J
000506   B6C3Fe a/a-Qkqk-v/J
000224   B6C3Fe a/a-Scyl1mdf/J
003020   B6C3Fe a/a-Zdhhc21dep/J
001037   B6C3Fe a/a-Agtpbp1pcd/J
000221   B6C3Fe a/a-Alx4lst-J/J
002062   B6C3Fe a/a-Atp7aMo-8J/J
001756   B6C3Fe a/a-Cacng2stg/J
001815   B6C3Fe a/a-Col1a2oim/J
000209   B6C3Fe a/a-Dh/J
000211   B6C3Fe a/a-Dstdt-J/J
000210   B6C3Fe a/a-Edardl-J/J
000207   B6C3Fe a/a-Edaraddcr/J
000182   B6C3Fe a/a-Eef1a2wst/J
001278   B6C3Fe a/a-Glra1spd/J
000241   B6C3Fe a/a-Glrbspa/J
002875   B6C3Fe a/a-Hoxd13spdh/J
000304   B6C3Fe a/a-Krt71Ca Scn8amed-J/J
000226   B6C3Fe a/a-Largemyd/J
000636   B6C3Fe a/a-Lmx1adr-J/J
001280   B6C3Fe a/a-Lse/J
001573   B6C3Fe a/a-MitfMi/J
001035   B6C3Fe a/a-Napahyh/J
000181   B6C3Fe a/a-Otogtwt/J
000278   B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J
000205   B6C3Fe a/a-Papss2bm/J
002078   B6C3Fe a/a-Pcdh15av-2J/J
000246   B6C3Fe a/a-Pitpnavb/J
001430   B6C3Fe a/a-Ptch1mes/J
000235   B6C3Fe a/a-Relnrl/J
000237   B6C3Fe a/a-Rorasg/J
000290   B6C3Fe a/a-Sox10Dom/J
000230   B6C3Fe a/a-Tcirg1oc/J
003612   B6C3Fe a/a-Trak1hyrt/J
001512   B6C3Fe a/a-Ttnmdm/J
001607   B6C3Fe a/a-Unc5crcm/J
000005   B6C3Fe a/a-Wc/J
000243   B6C3Fe a/a-Wnt1sw/J
000248   B6C3Fe a/a-Xpl/J
000624   B6C3Fe a/a-anx/J
008044   B6C3Fe a/a-bpck/J
002018   B6C3Fe a/a-din/J
002339   B6C3Fe a/a-nma/J
000240   B6C3Fe a/a-soc/J
000063   B6C3Fe a/a-sy/J
001055   B6C3Fe a/a-tip/J
000245   B6C3Fe a/a-tn/J
000065   B6C3Fe a/a-we Pax1un at/J
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
000019   B6C3Fe-a/a-Itpr1opt/J
003301   B6C3FeF1 a/A-Eya1bor/J
001022   B6C3FeF1/J a/a
000314   B6CBACa Aw-J/A-EdaTa/J-XO
006450   B6EiC3 a/A-Vss/GrsrJ
000971   B6EiC3 a/A-Och/J
000551   B6EiC3 a/A-Tbx15de-H/J
000557   B6EiC3-+ a/LnpUl A/J
000504   B6EiC3Sn a/A-Cacnb4lh/J
000553   B6EiC3Sn a/A-Egfrwa2 Wnt3avt/J
000503   B6EiC3Sn a/A-Gy/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
000391   B6EiC3Sn a/A-Pax6Sey-Dey/J
001923   B6EiC3Sn a/A-Ts(417)2Lws TimT(4;17)3Lws/J
001875   B6EiC3SnF1/J
000638   C3FeB6 A/Aw-J-Sptbn4qv-J/J
000200   C3FeB6 A/Aw-J-Ankank/J
000225   C3FeLe.B6 a/a-Ptpn6me/J
000198   C3FeLe.B6-a/J
000291   C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J
001272   C3H/HeSnJ-Ahvy/J
000099   C3HeB/FeJ-Avy/J
001886   C3HeB/FeJLe a/a-gnd/J
000584   C57BL/6J-+ T(1;2)5Ca/a +/J
000258   C57BL/6J-Ai/a/J
000774   C57BL/6J-Asy/a/J
000055   C57BL/6J-at-33J/J
000070   C57BL/6J-atd/J
000284   CWD/LeJ
000670   DBA/1J
000671   DBA/2J
001057   HPT/LeJ
000260   JGBF/LeJ
002468   KK.Cg-Ay/J
000262   LS/LeJ
000283   LT.CAST-A/J
000265   MY/HuLeJ
000308   SSL/LeJ
001759   STOCK A Tyrc Sha/J
001427   STOCK Aw us/J
000994   STOCK a Myo5ad Mregdsu/J
000064   STOCK a Tyrp1b Pmelsi/J
002238   STOCK a Tyrp1b shmy/J
001433   STOCK a skt/J
000579   STOCK a tp/J
000319   STOCK a us/J
002648   STOCK a/a Cln6nclf/J
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/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     (154 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Skin/Hair/Eye Pigmentation, Variation In, 9; SHEP9   (ASIP)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

SfnEr/Sfn+

        B6CBACa Aw-J/A-SfnEr/J
  • integument phenotype
  • premature hair loss
    • repeated hair loss in adults   (MGI Ref ID J:102931)

SfnEr/SfnEr

        B6CBACa Aw-J/A-SfnEr/J
  • mortality/aging
  • complete perinatal lethality
    • die at birth due to respiratory stress   (MGI Ref ID J:102931)
  • respiratory system phenotype
  • respiratory distress   (MGI Ref ID J:102931)
  • craniofacial phenotype
  • abnormal craniofacial development
    • fusion of the epithelium of the oral cavity   (MGI Ref ID J:102931)
  • limbs/digits/tail phenotype
  • short limbs
  • short tail
  • integument phenotype
  • abnormal keratinocyte differentiation
    • failure of keratinocyte terminal differentiation; epidermis cells do not differentiate into mature granular and cornified cells   (MGI Ref ID J:102931)
  • absent epidermis stratum corneum
    • the thickened epidermis lacks the stratum corneum   (MGI Ref ID J:102931)
  • absent epidermis stratum granulosum
    • the thickened epidermis lacks the stratum granulosum   (MGI Ref ID J:102931)
  • epidermal hyperplasia   (MGI Ref ID J:102931)
  • shiny skin   (MGI Ref ID J:102931)
  • thick epidermis   (MGI Ref ID J:102931)
  • cellular phenotype
  • abnormal keratinocyte differentiation
    • failure of keratinocyte terminal differentiation; epidermis cells do not differentiate into mature granular and cornified cells   (MGI Ref ID J:102931)

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

SfnEr/Sfn+

        involves: 129/Sv * C57BL/6
  • mortality/aging
  • partial lethality at weaning
    • increased mortality starting at about the time hair loss starts and continuing through weaning and a little after   (MGI Ref ID J:6200)
    • mice surviving the post weaning period are fertile and live normal lifespans   (MGI Ref ID J:6200)
  • growth/size phenotype
  • postnatal growth retardation
    • starting about the same time as hair loss   (MGI Ref ID J:6200)
  • tumorigenesis
  • skin papilloma
    • 67% frequency in mice older than 6 months   (MGI Ref ID J:12025)
    • begin as small sessile or pedunculated papillomas, then most enlarge, and many develop horns   (MGI Ref ID J:12025)
    • no evidence of virus particles   (MGI Ref ID J:12025)
  • squamous cell carcinoma
    • 67% frequency in mice older than 6 months   (MGI Ref ID J:12025)
    • squamous cell carcinomas in the fleshy base of large cutaneous horns   (MGI Ref ID J:12025)
    • no evidence of virus particles   (MGI Ref ID J:12025)
  • integument phenotype
  • premature hair loss
    • first coat lost by 3 weeks then quickly replaced and lost again   (MGI Ref ID J:6200)
    • hair loss begins around eyes and nose   (MGI Ref ID J:6200)
    • normal until around 13 days when hair loss begins   (MGI Ref ID J:29020)
  • skin papilloma
    • 67% frequency in mice older than 6 months   (MGI Ref ID J:12025)
    • begin as small sessile or pedunculated papillomas, then most enlarge, and many develop horns   (MGI Ref ID J:12025)
    • no evidence of virus particles   (MGI Ref ID J:12025)
  • sparse hair   (MGI Ref ID J:29020)

SfnEr/SfnEr

        involves: 129/Sv * C57BL/6
  • mortality/aging
  • complete neonatal lethality
    • born alive   (MGI Ref ID J:6200)
    • die shortly after birth of acute respiratory distress due to a closed oral cavity   (MGI Ref ID J:6200)
  • respiratory system phenotype
  • abnormal nose morphology
    • oral cavity closed   (MGI Ref ID J:6200)
    • abnormal external nares morphology
      • nostrils present only as two very small holes   (MGI Ref ID J:6200)
      • nares are smaller than normal by embryonic day 13   (MGI Ref ID J:7243)
    • abnormal nasal cavity morphology
      • the nasal cavities remain separated from the oral cavity and the palatal swellings are joined directly to the sidewalls of the nasal septum   (MGI Ref ID J:7243)
  • abnormal pharynx morphology
    • at embryonic day 14 the nasal palatal zone is reduced in size, there is a palato-mandibular joining, and the areas bordering the oral cavity are compressed and deformed   (MGI Ref ID J:7243)
    • abnormal nasopharynx morphology
      • by embryonic day 14 the naso-pharyngeal duct is greatly modified   (MGI Ref ID J:7243)
  • respiratory distress
    • acute respiratory distress is cause of death   (MGI Ref ID J:6200)
  • respiratory failure
    • pups try to breath but cannot due to closed oral cavity   (MGI Ref ID J:6200)
  • digestive/alimentary phenotype
  • abnormal perineum morphology
    • urogenital orifices undetectable   (MGI Ref ID J:6200)
  • abnormal tongue morphology
    • inadequate space in the oral cavity for the tongue to develop abnormally such that at embryonic day 15 the apical extremity of the tongue is very far back, it is closely joined to the nasal septum for a long way, the dorsal surface is ondulated, its musculature is compressed in an antero-posterior direction and the tongue is compressed by the maxillae, palatal shelves and nasal septum   (MGI Ref ID J:7243)
    • at embryonic day 18 large lacunae are found in the lateral parts and cystic formation appear at the place of genio-glossal and genio-hyoid muscles   (MGI Ref ID J:7243)
    • tongue fused to both premaxilla and mandible   (MGI Ref ID J:6200)
  • anal atresia
    • anal orifice undetectable   (MGI Ref ID J:6200)
  • cleft secondary palate
    • palatal shelves fail to fuse along midline   (MGI Ref ID J:6200)
    • palatal shelf fusion with tongue or mandible
      • development of the palatal shelves is impinged and they are connected to the tongue and mandible at embryonic days 14 and 15 such that they do not reorient   (MGI Ref ID J:7243)
  • herniated intestine
    • 1-2 external loops of the bowel occasionally seen (Celosomia)   (MGI Ref ID J:6200)
  • liver/biliary system phenotype
  • abnormal liver morphology
    • sometimes partially protrudes from the body cavity   (MGI Ref ID J:6200)
  • craniofacial phenotype
  • abnormal head morphology   (MGI Ref ID J:7243)
    • abnormal external auditory canal morphology
      • the auditory ducts appear sealed at embryonic day 15   (MGI Ref ID J:7243)
    • abnormal facial morphology
      • beginning at embryonic day 13 the face, from the top of the cranium to the tip of the snout becomes flattened leaving a shortened snout and decreased prominance of the features, with vibrissae more difficult to discern   (MGI Ref ID J:7243)
      • abnormal nose morphology
        • oral cavity closed   (MGI Ref ID J:6200)
        • abnormal external nares morphology
          • nostrils present only as two very small holes   (MGI Ref ID J:6200)
          • nares are smaller than normal by embryonic day 13   (MGI Ref ID J:7243)
        • abnormal nasal cavity morphology
          • the nasal cavities remain separated from the oral cavity and the palatal swellings are joined directly to the sidewalls of the nasal septum   (MGI Ref ID J:7243)
      • abnormal orofacial morphology   (MGI Ref ID J:6200)
        • abnormal tongue morphology
          • inadequate space in the oral cavity for the tongue to develop abnormally such that at embryonic day 15 the apical extremity of the tongue is very far back, it is closely joined to the nasal septum for a long way, the dorsal surface is ondulated, its musculature is compressed in an antero-posterior direction and the tongue is compressed by the maxillae, palatal shelves and nasal septum   (MGI Ref ID J:7243)
          • at embryonic day 18 large lacunae are found in the lateral parts and cystic formation appear at the place of genio-glossal and genio-hyoid muscles   (MGI Ref ID J:7243)
          • tongue fused to both premaxilla and mandible   (MGI Ref ID J:6200)
        • cleft secondary palate
          • palatal shelves fail to fuse along midline   (MGI Ref ID J:6200)
          • palatal shelf fusion with tongue or mandible
            • development of the palatal shelves is impinged and they are connected to the tongue and mandible at embryonic days 14 and 15 such that they do not reorient   (MGI Ref ID J:7243)
        • fused lips
          • lip fusion begins laterally on embryonic day 13 and closure of the lips is nearly complete by embryonic day 15   (MGI Ref ID J:7243)
        • oral atresia   (MGI Ref ID J:6200)
        • thin lip   (MGI Ref ID J:6200)
      • flattened snout   (MGI Ref ID J:7243)
      • short snout
        • truncated   (MGI Ref ID J:6200)
    • microcephaly
      • from embryonic day 13 on there is a clear reduction in the cephalic volume   (MGI Ref ID J:7243)
    • small ears
      • pinna reduced in size   (MGI Ref ID J:6200)
      • smaller than normal by embryonic day 13   (MGI Ref ID J:7243)
  • abnormal jaw morphology
    • at embryonic day 13 the mandible is positioned further forward than normal with the center and lateral zones being closer to the maxilla so that there is less space between them   (MGI Ref ID J:7243)
    • complete fusion of premaxillary and lower jaw epithelia   (MGI Ref ID J:6200)
    • abnormal mandible morphology
      • by embryonic day 14 the mandible is malformed and fused with the maxilla leaving the oral cavity completely filled in   (MGI Ref ID J:7243)
  • limbs/digits/tail phenotype
  • abnormal phalanx morphology
    • phalanges sometimes fused (symphalangy)   (MGI Ref ID J:6200)
    • complete disappearance of distal phalangies sometimes   (MGI Ref ID J:6200)
    • brachyphalangia   (MGI Ref ID J:6200)
  • abnormal radius morphology
    • radius held closer to humerus   (MGI Ref ID J:6200)
  • decreased caudal vertebrae number
    • 10-12 caudal vertebrae missing   (MGI Ref ID J:6200)
  • short limbs
    • limbs and tail greatly shortened   (MGI Ref ID J:6200)
  • skeleton phenotype
  • abnormal axial skeleton morphology   (MGI Ref ID J:6200)
    • abnormal jaw morphology
      • at embryonic day 13 the mandible is positioned further forward than normal with the center and lateral zones being closer to the maxilla so that there is less space between them   (MGI Ref ID J:7243)
      • complete fusion of premaxillary and lower jaw epithelia   (MGI Ref ID J:6200)
      • abnormal mandible morphology
        • by embryonic day 14 the mandible is malformed and fused with the maxilla leaving the oral cavity completely filled in   (MGI Ref ID J:7243)
    • abnormal spine curvature
      • by embryonic day 15 there is no curvature of the neck   (MGI Ref ID J:7243)
      • kyphosis
        • accentuated dorsal curvature and head shifted slightly forward along body axis   (MGI Ref ID J:6200)
    • decreased caudal vertebrae number
      • 10-12 caudal vertebrae missing   (MGI Ref ID J:6200)
  • abnormal phalanx morphology
    • phalanges sometimes fused (symphalangy)   (MGI Ref ID J:6200)
    • complete disappearance of distal phalangies sometimes   (MGI Ref ID J:6200)
    • brachyphalangia   (MGI Ref ID J:6200)
  • abnormal radius morphology
    • radius held closer to humerus   (MGI Ref ID J:6200)
  • reproductive system phenotype
  • abnormal perineum morphology
    • urogenital orifices undetectable   (MGI Ref ID J:6200)
  • hearing/vestibular/ear phenotype
  • abnormal external auditory canal morphology
    • the auditory ducts appear sealed at embryonic day 15   (MGI Ref ID J:7243)
  • small ears
    • pinna reduced in size   (MGI Ref ID J:6200)
    • smaller than normal by embryonic day 13   (MGI Ref ID J:7243)
  • vision/eye phenotype
  • microphthalmia   (MGI Ref ID J:6200)
    • at embryonic day 13 the eyes are less prominant than normal and at embryonic day 15 the eyes are smaller and much less prominent than normal   (MGI Ref ID J:7243)
  • integument phenotype
  • abnormal epidermal layer morphology   (MGI Ref ID J:6708)
    • abnormal epidermis stratum basale morphology
      • stratum germinativum underdeveloped   (MGI Ref ID J:6200)
      • fewer desmosomes between basal layer cells   (MGI Ref ID J:6708)
    • abnormal epidermis stratum corneum morphology
      • cells less organized   (MGI Ref ID J:6708)
      • true cornified zone not seen   (MGI Ref ID J:6708)
    • abnormal epidermis stratum granulosum morphology
      • cells less organized   (MGI Ref ID J:6708)
      • increased number of granular cell layers   (MGI Ref ID J:6708)
  • decreased hair follicle number
    • hair follicles very rare   (MGI Ref ID J:6200)
  • shiny skin   (MGI Ref ID J:6200)
  • thin skin
    • extremely thin and smooth   (MGI Ref ID J:6200)
    • inconsistent thickness   (MGI Ref ID J:6708)

SfnEr/SfnEr

        involves: C57BL/6By
  • limbs/digits/tail phenotype
  • abnormal limb development
    • the forelimbs are found to fuse with the flank skin and the himdlimbs are found to fuse with the tail epidermis   (MGI Ref ID J:148459)
    • abnormal foot plate morphology
      • at embryonic day 13 the precartilaginous condensations of the distal footplate appear closer to each other than normal, on embryonic day 14 the footplate is severely deformed, being rounded with converging precartilaginous elements instead of flattened with radiating digit precartilages, and individualization of the digits does not occur   (MGI Ref ID J:148459)
    • abnormal limb bud morphology
      • the limb bud is smaller than normal, does not flatten or form digits, and remains stumpy throughout development; the difference is detectable as early as embryonic day 13   (MGI Ref ID J:148459)
      • abnormal apical ectodermal ridge morphology
        • the apical ectodermal ridge is hyperplastic and penetrates the underlying mesenchyme at embryonic day 13 when the epidermal layer is irregularly thickened   (MGI Ref ID J:148459)
      • small limb buds   (MGI Ref ID J:148459)
  • abnormal tail morphology
    • at embryonic day 13 the tail tip is bent toward the dorsal side, at embryonic day 14 there is a twisting or kinking of the distal part of the tail, and the tail is stumpy and joined to the hindlimbs from embryonic day 15 on   (MGI Ref ID J:148459)
    • kinked tail   (MGI Ref ID J:148459)
    • short tail
      • in all homozygotes   (MGI Ref ID J:148459)
  • syndactyly   (MGI Ref ID J:148459)
  • craniofacial phenotype
  • abnormal craniofacial development   (MGI Ref ID J:148459)
  • abnormal lip morphology
    • at embryonic day 15 the lips are fused   (MGI Ref ID J:148459)
  • vision/eye phenotype
  • abnormal eyelid morphology
    • at embryonic day 15 the lower eyelid covers much more of the cornea than it does in wild-type controls, only a small central area remains where the two eyelids have not grown together, the leading edge is irregular, abnormal, flattened ectodermal cells cover the entire surface of the cornea, and no corneal epithelium is visible   (MGI Ref ID J:148460)
    • by embryonic day 19 the eyelids are grown together and the surface covering the eye is smooth, thin, shiny and translucent   (MGI Ref ID J:148460)
    • in newborns a continuous sheet of epithelial cells, which are abnormally flat, densely packed, lacking distinct cell boundaries, and disorganized in their arrangement, extends from the anterior corneal stroma to the surface of the eyelid and compresses the eyelid stroma into a thin wedge   (MGI Ref ID J:148460)
    • abnormal eyelid aperture   (MGI Ref ID J:148460)
    • abnormal eyelid fusion   (MGI Ref ID J:148460)
  • microphthalmia
    • evident at embryonic day 15   (MGI Ref ID J:148459)
  • embryogenesis phenotype
  • abnormal limb bud morphology
    • the limb bud is smaller than normal, does not flatten or form digits, and remains stumpy throughout development; the difference is detectable as early as embryonic day 13   (MGI Ref ID J:148459)
    • abnormal apical ectodermal ridge morphology
      • the apical ectodermal ridge is hyperplastic and penetrates the underlying mesenchyme at embryonic day 13 when the epidermal layer is irregularly thickened   (MGI Ref ID J:148459)
    • small limb buds   (MGI Ref ID J:148459)
  • integument phenotype
  • abnormal epidermal layer morphology
    • at embryonic day 14 the flank epidermis is composed of several layers of flat cells and is approximately twice as thick as normal, while the dorsal and head skin remains thin   (MGI Ref ID J:148459)
    • at embryonic day 15 thickened epidermis extends to include the dorsal region and the hair nodules are delayed in appearance   (MGI Ref ID J:148459)
    • at embryonic day 16 the spinous layers are irregularly thickened and there are several layers of flattened cells above them   (MGI Ref ID J:148459)
    • while normal epidermis becomes wrinkled from embryonic day 17 onward, the epidermis of the homozygote remains smooth   (MGI Ref ID J:148459)
    • normal stratification of the epidermal layers is disturbed and on embyronic day 18 the basal layer has numerous lobes penetrating into the dermis, the hair follicles are irregularly spread between these lobes, the stratum spinosum is thickened with the superficial horny layers of the skin lacking or reduced, and the stratum granulosum is delayed in formation and varies in thickness   (MGI Ref ID J:148459)
    • abnormal epidermis stratum basale morphology   (MGI Ref ID J:148459)
    • abnormal epidermis stratum spinosum morphology   (MGI Ref ID J:148459)
    • thick epidermis   (MGI Ref ID J:148459)
    • thin epidermis   (MGI Ref ID J:148459)
  • distorted hair follicle pattern
    • scarce hair follicles at the surface of the skin at embryonic day 18, but hair follicles are found irregularly distributed and localized deeper into the dermis than normal   (MGI Ref ID J:148459)

SfnEr/SfnEr

        Background Not Specified
  • craniofacial phenotype
  • *normal* craniofacial phenotype
    • mice exhibit normal molar tooth germ   (MGI Ref ID J:184926)
View Research Applications

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

SfnEr related

Dermatology Research
Skin and Hair Texture Defects

Developmental Biology Research
Craniofacial and Palate Defects
      congenital cleft palate
Perinatal Lethality
      Homozygous
Skeletal Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Aw-J
Allele Name white bellied agouti Jackson
Allele Type Spontaneous
Common Name(s) AWJ;
Strain of OriginC57BL/6J
Gene Symbol and Name a, nonagouti
Chromosome 2
Gene Common Name(s) AGSW; AGTI; AGTIL; ASP; As; SHEP9; agouti; agouti signal protein; agouti suppressor;
 
Allele Symbol SfnEr
Allele Name repeated epilation
Allele Type Radiation induced
Common Name(s) Er;
Gene Symbol and Name Sfn, stratifin
Chromosome 4
Gene Common Name(s) 14-3-3 sigma; Er; MME1; YWHAS; Ywhas; repeated epilation; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, sigma polypeptide;
General Note Sfn is on Chr 4 close to pupoid fetus (pf), a mutant which SfnEr closely resembles.
Molecular Note A single T insertion at base pair 622 causes a frame shift mutation at amino acid residue 207 truncating the C-terminus of the protein. This eliminates residues required for ligand interaction. Production of truncated protein was demonstrated immunologically. The hair-loss phenotype could be rescued using a Sfn containing transgene. [MGI Ref ID J:101891]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Aw-J related

Aberg T; Wang XP; Kim JH; Yamashiro T; Bei M; Rice R; Ryoo HM; Thesleff I. 2004. Runx2 mediates FGF signaling from epithelium to mesenchyme during tooth morphogenesis. Dev Biol 270(1):76-93. [PubMed: 15136142]  [MGI Ref ID J:92174]

Banerjee H; Das A; Srivastava S; Mattoo HR; Thyagarajan K; Khalsa JK; Tanwar S; Das DS; Majumdar SS; George A; Bal V; Durdik JM; Rath S. 2012. A role for apoptosis-inducing factor in T cell development. J Exp Med 209(9):1641-53. [PubMed: 22869892]  [MGI Ref ID J:191446]

Barsh GS; Epstein CJ. 1989. Physical and genetic characterization of a 75-kilobase deletion associated with al, a recessive lethal allele at the mouse agouti locus. Genetics 121(4):811-8. [PubMed: 2566558]  [MGI Ref ID J:9799]

Baurle J; Vogten H; Grusser-Cornehls U. 1998. Course and targets of the calbindin D-28k subpopulation of primary vestibular afferents. J Comp Neurol 402(1):111-28. [PubMed: 9831049]  [MGI Ref ID J:118430]

Boran T; Lesot H; Peterka M; Peterkova R. 2005. Increased apoptosis during morphogenesis of the lower cheek teeth in tabby/EDA mice. J Dent Res 84(3):228-33. [PubMed: 15723861]  [MGI Ref ID J:112546]

Chinta SJ; Rane A; Yadava N; Andersen JK; Nicholls DG; Polster BM. 2009. Reactive oxygen species regulation by AIF- and complex I-depleted brain mitochondria. Free Radic Biol Med 46(7):939-47. [PubMed: 19280713]  [MGI Ref ID J:145908]

Cui CY; Hashimoto T; Grivennikov SI; Piao Y; Nedospasov SA; Schlessinger D. 2006. Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation. Proc Natl Acad Sci U S A 103(24):9142-7. [PubMed: 16738056]  [MGI Ref ID J:111051]

Cui CY; Kunisada M; Esibizione D; Grivennikov SI; Piao Y; Nedospasov SA; Schlessinger D. 2007. Lymphotoxin-beta regulates periderm differentiation during embryonic skin development. Hum Mol Genet 16(21):2583-90. [PubMed: 17673451]  [MGI Ref ID J:129949]

Cunningham D; Spychala K; McLarren KW; Garza LA; Boerkoel CF; Herman GE. 2009. Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse. Mol Genet Metab 98(4):356-66. [PubMed: 19631568]  [MGI Ref ID J:155028]

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

Esibizione D; Cui CY; Schlessinger D. 2008. Candidate EDA targets revealed by expression profiling of primary keratinocytes from Tabby mutant mice. Gene 427(1-2):42-6. [PubMed: 18848976]  [MGI Ref ID J:143603]

Granholm DE; Reese RN; Granholm NH. 1996. Agouti alleles alter cysteine and glutathione concentrations in hair follicles and serum of mice (A y/a, A wJ/A wJ, and a/a). J Invest Dermatol 106(3):559-63. [PubMed: 8648194]  [MGI Ref ID J:32132]

Granholm DE; Reese RN; Granholm NH. 1995. Agouti alleles influence thiol concentrations in hair follicles and extrafollicular tissues of mice (Ay/a, AwJ/AwJ, a/a). Pigment Cell Res 8(6):302-6. [PubMed: 8789738]  [MGI Ref ID J:31403]

Hisatomi T; Nakao S; Murakami Y; Noda K; Nakazawa T; Notomi S; Connolly E; She H; Almulki L; Ito Y; Vavvas DG; Ishibashi T; Miller JW. 2012. The regulatory roles of apoptosis-inducing factor in the formation and regression processes of ocular neovascularization. Am J Pathol 181(1):53-61. [PubMed: 22613025]  [MGI Ref ID J:185543]

Jones JM; Huang JD; Mermall V; Hamilton BA; Mooseker MS; Escayg A; Copeland NG; Jenkins NA; Meisler MH. 2000. The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Hum Mol Genet 9(5):821-8. [PubMed: 10749990]  [MGI Ref ID J:61324]

Kappenman KE; Dvoracek MA; Harvison GA; Fuller BB; Granholm NH. 1992. Tyrosinase abundance and activity in murine hairbulb melanocytes of agouti mutants (C57BL/6J-a/a, Ay/a, and AwJ/AwJ). Pigment Cell Res Suppl 2:79-83. [PubMed: 1409442]  [MGI Ref ID J:1295]

Katoh A; Yoshida T; Himeshima Y; Mishina M; Hirano T. 2005. Defective control and adaptation of reflex eye movements in mutant mice deficient in either the glutamate receptor delta2 subunit or Purkinje cells. Eur J Neurosci 21(5):1315-26. [PubMed: 15813941]  [MGI Ref ID J:101081]

Knapp PE; Adjan VV; Hauser KF. 2009. Cell-specific loss of kappa-opioid receptors in oligodendrocytes of the dysmyelinating jimpy mouse. Neurosci Lett 451(2):114-8. [PubMed: 19110031]  [MGI Ref ID J:146365]

Lee M; Kim A; Chua SC Jr; Obici S; Wardlaw SL. 2007. Transgenic MSH overexpression attenuates the metabolic effects of a high-fat diet. Am J Physiol Endocrinol Metab 293(1):E121-31. [PubMed: 17374695]  [MGI Ref ID J:126508]

Lu W; Tsirka SE. 2002. Partial rescue of neural apoptosis in the Lurcher mutant mouse through elimination of tissue plasminogen activator. Development 129(8):2043-50. [PubMed: 11934869]  [MGI Ref ID J:111363]

Martin LA; Goldowitz D; Mittleman G. 2010. Repetitive behavior and increased activity in mice with Purkinje cell loss: a model for understanding the role of cerebellar pathology in autism. Eur J Neurosci 31(3):544-55. [PubMed: 20105240]  [MGI Ref ID J:159466]

Mayer TC; Fishbane JL. 1972. Mesoderm-ectoderm interaction in the production of the agouti pigmentation pattern in mice. Genetics 71(2):297-303. [PubMed: 4558326]  [MGI Ref ID J:5288]

Mitsumori K; Yasuhara K; Mori I; Hayashi S; Shimo T; Onodera H; Nomura T; Hayashi Y. 1998. Pulmonary fibrosis caused by N-methyl-N-nitrosourethane inhibits lung tumorigenesis by urethane in transgenic mice carrying the human prototype c-Ha-ras gene. Cancer Lett 129(2):181-90. [PubMed: 9719460]  [MGI Ref ID J:52138]

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

Mullen RJ. 1974. A<w-J> - white-bellied agouti-J Mouse News Lett 50:38.  [MGI Ref ID J:64104]

Mustonen T; Ilmonen M; Pummila M; Kangas AT; Laurikkala J; Jaatinen R; Pispa J; Gaide O; Schneider P; Thesleff I; Mikkola ML. 2004. Ectodysplasin A1 promotes placodal cell fate during early morphogenesis of ectodermal appendages. Development 131(20):4907-19. [PubMed: 15371307]  [MGI Ref ID J:128256]

O'donnell SM; Hansberger MW; Connolly JL; Chappell JD; Watson MJ; Pierce JM; Wetzel JD; Han W; Barton ES; Forrest JC; Valyi-Nagy T; Yull FE; Blackwell TS; Rottman JN; Sherry B; Dermody TS. 2005. Organ-specific roles for transcription factor NF-kappaB in reovirus-induced apoptosis and disease. J Clin Invest 115(9):2341-2350. [PubMed: 16100570]  [MGI Ref ID J:100906]

Peng J; Wu Z; Wu Y; Hsu M; Stevenson FF; Boonplueang R; Roffler-Tarlov SK; Andersen JK. 2002. Inhibition of caspases protects cerebellar granule cells of the weaver mouse from apoptosis and improves behavioral phenotype. J Biol Chem 277(46):44285-91. [PubMed: 12221097]  [MGI Ref ID J:119427]

Peng J; Xie L; Stevenson FF; Melov S; Di Monte DA; Andersen JK. 2006. Nigrostriatal dopaminergic neurodegeneration in the weaver mouse is mediated via neuroinflammation and alleviated by minocycline administration. J Neurosci 26(45):11644-51. [PubMed: 17093086]  [MGI Ref ID J:114943]

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

Probst FJ; Cooper ML; Cheung SW; Justice MJ. 2008. Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome. J Hered 99(5):512-7. [PubMed: 18499648]  [MGI Ref ID J:138994]

Prtenjaca A; Hill KA. 2011. Mutation frequency is not elevated in the cerebellum of harlequin/Big Blue((R)) mice but Class II deletions occur preferentially in young harlequin cerebellum. Mutat Res 707(1-2):53-60. [PubMed: 21195094]  [MGI Ref ID J:168461]

Smith DE; Xu SG. 2003. Ultrastructural organization of GABA-like immunoreactive profiles in the weaver substantia nigra. J Neurocytol 32(3):293-303. [PubMed: 14724391]  [MGI Ref ID J:121345]

Vandenput L; Swinnen JV; Boonen S; Van Herck E; Erben RG; Bouillon R; Vanderschueren D. 2004. Role of the androgen receptor in skeletal homeostasis: the androgen-resistant testicular feminized male mouse model. J Bone Miner Res 19(9):1462-70. [PubMed: 15312246]  [MGI Ref ID J:111491]

Wu Q; Miller RH; Ransohoff RM; Robinson S; Bu J; Nishiyama A. 2000. Elevated levels of the chemokine GRO-1 correlate with elevated oligodendrocyte progenitor proliferation in the jimpy mutant. J Neurosci 20(7):2609-17. [PubMed: 10729341]  [MGI Ref ID J:109469]

Yamago G; Takata Y; Furuta I; Urase K; Momoi T; Huh N. 2001. Suppression of hair follicle development inhibits induction of sonic hedgehog, patched, and patched-2 in hair germs in mice. Arch Dermatol Res 293(9):435-41. [PubMed: 11758785]  [MGI Ref ID J:116953]

Yoshida T; Katoh A; Ohtsuki G; Mishina M; Hirano T. 2004. Oscillating Purkinje neuron activity causing involuntary eye movement in a mutant mouse deficient in the glutamate receptor delta2 subunit. J Neurosci 24(10):2440-8. [PubMed: 15014119]  [MGI Ref ID J:97010]

Zhang M; Su YQ; Sugiura K; Xia G; Eppig JJ. 2010. Granulosa cell ligand NPPC and its receptor NPR2 maintain meiotic arrest in mouse oocytes. Science 330(6002):366-9. [PubMed: 20947764]  [MGI Ref ID J:164870]

van Empel VP; Bertrand AT; van der Nagel R; Kostin S; Doevendans PA; Crijns HJ; de Wit E; Sluiter W; Ackerman SL; De Windt LJ. 2005. Downregulation of apoptosis-inducing factor in harlequin mutant mice sensitizes the myocardium to oxidative stress-related cell death and pressure overload-induced decompensation. Circ Res 96(12):e92-e101. [PubMed: 15933268]  [MGI Ref ID J:110278]

SfnEr related

Blackburn J; Ohazama A; Kawasaki K; Otsuka-Tanaka Y; Liu B; Honda K; Rountree RB; Hu Y; Kawasaki M; Birchmeier W; Schmidt-Ullrich R; Kinoshita A; Schutte BC; Hammond NL; Dixon MJ; Sharpe PT. 2012. The role of Irf6 in tooth epithelial invagination. Dev Biol 365(1):61-70. [PubMed: 22366192]  [MGI Ref ID J:184926]

Cousins S; Rodrigues MM; Brown KS; Dale BA. 1984. Abnormal corneal and eyelid development in the repeated epilation mouse. Lab Anim Sci 34(2):156-63. [PubMed: 6374282]  [MGI Ref ID J:148460]

Fisher C. 1987. Abnormal development in the skin of the pupoid fetus (pf/pf) mutant mouse: abnormal keratinization, recovery of a normal phenotype, and relationship to the repeated epilation (Er/Er) mutant mouse. Curr Top Dev Biol 22:209-34. [PubMed: 2443312]  [MGI Ref ID J:8835]

Fisher C. 2000. IKKalpha-/- mice share phenotype with pupoid fetus (pf/pf) and repeated epilation (Er/Er) mutant mice. Trends Genet 16(11):482-4. [PubMed: 11203384]  [MGI Ref ID J:65526]

Fisher C; Byers MR; Iadarola MJ; Powers EA. 1991. Patterns of epithelial expression of Fos protein suggest important role in the transition from viable to cornified cell during keratinization. Development 111(2):253-8. [PubMed: 1909952]  [MGI Ref ID J:32257]

Guenet JL; Salzgeber B; Tassin MT. 1979. Repeated epilation: a genetic epidermal syndrome in mice. J Hered 70(2):90-4. [PubMed: 479550]  [MGI Ref ID J:6200]

Herron BJ; Liddell RA; Parker A; Grant S; Kinne J; Fisher JK; Siracusa LD. 2005. A mutation in stratifin is responsible for the repeated epilation (Er) phenotype in mice. Nat Genet 37(11):1210-2. [PubMed: 16200063]  [MGI Ref ID J:101891]

Holbrook KA; Dale BA; Brown KS. 1982. Abnormal epidermal keratinization in the repeated epilation mutant mouse. J Cell Biol 92(2):387-97. [PubMed: 6174530]  [MGI Ref ID J:6708]

Hunsicker. 1960. Repeated epilation, Er Mouse News Lett 23:58-9.  [MGI Ref ID J:29020]

Jones AH; Lehman P; Dale BA. 1992. Altered retinoid distribution in the repeated epilation (Er) mutant mouse. J Craniofac Genet Dev Biol 12(2):63-75. [PubMed: 1613075]  [MGI Ref ID J:1467]

Li Q; Lu Q; Estepa G; Verma IM. 2005. Identification of 14-3-3sigma mutation causing cutaneous abnormality in repeated-epilation mutant mouse. Proc Natl Acad Sci U S A 102(44):15977-82. [PubMed: 16239341]  [MGI Ref ID J:102931]

Li Q; Sambandam SA; Lu HJ; Thomson A; Kim SH; Lu H; Xin Y; Lu Q. 2011. 14-3-3sigma and p63 play opposing roles in epidermal tumorigenesis. Carcinogenesis 32(12):1782-8. [PubMed: 21926108]  [MGI Ref ID J:178010]

Lu Q; Xin Y; Ye F; Foulks G; Li Q. 2011. 14-3-3{sigma} Controls Corneal Epithelium Homeostasis and Wound Healing. Invest Ophthalmol Vis Sci 52(5):2389-96. [PubMed: 21228373]  [MGI Ref ID J:171535]

Lutzner MA; Guenet JL; Breitburd F. 1985. Multiple cutaneous papillomas and carcinomas that develop spontaneously in a mouse mutant, the repeated epilation heterozygote Er/+. J Natl Cancer Inst 75(1):161-6. [PubMed: 2989601]  [MGI Ref ID J:12025]

Richardson RJ; Dixon J; Malhotra S; Hardman MJ; Knowles L; Boot-Handford RP; Shore P; Whitmarsh A; Dixon MJ. 2006. Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch. Nat Genet 38(11):1329-34. [PubMed: 17041603]  [MGI Ref ID J:116077]

Salzgeber B; Guenet JL. 1984. Studies on "Repeated Epilation" Mouse Mutant Embryos: II. Development of limb, tail and skin defects J Craniofac Genet Dev Biol 4:95-114.  [MGI Ref ID J:148459]

Sundberg JP (ed.). 1994. Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. CRC Press, Boca Raton.  [MGI Ref ID J:30359]

Tassin MT; Salzgeber B; Guenet JL. 1983. Studies on repeated epilation mouse mutant embryos: I. Development of facial malformations. J Craniofac Genet Dev Biol 3(3):289-307. [PubMed: 6643653]  [MGI Ref ID J:7243]

Xin Y; Lu Q; Li Q. 2010. 14-3-3sigma is required for club hair retention. J Invest Dermatol 130(7):1934-6. [PubMed: 20237493]  [MGI Ref ID J:182118]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

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

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


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

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3000.00
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 will fulfill 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 11 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* $3900.00
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 will fulfill 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 11 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.

General Supply Notes

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
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. 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.


(6.2)