Strain Name:

JE/LeJ

Stock Number:

000259

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Availability:

Cryopreserved - Ready for recovery

Description

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

Strain Information

Former Names Jerker    (Changed: 15-DEC-04 )
Type Segregating Inbred;
Type Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Type Inbred Strain;
Additional information on Inbred Strains.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse
GenerationF64
Generation Definitions

Appearance
nonagouti, dark slate color, ruby eyed, tail bends, ataxic
Related Genotype: a/a Hps6ru/Hps6ru f/f Espnje/Espnje

dark slate color, ruby eyed, tail bends
Related Genotype: a/a Hps6ru/Hps6ru f/f Espnje/+

Important Note
This strain is homozygous for f and Hps6ru and segregating for Espnje.

Description
Mice homozygous for the jerker spontaneous mutation (Espnje) show behavior typical of the circling mutants - head-tossing, circling, and hyperactivity. Homozygous mutant mice are deaf from birth and have no detectable stimulus-related cochlear potential at any stage. The abnormal behavior and deafness are associated with postnatal degeneration of the sensory cells of the cochlea and the sacculus and utriculus in homozygotes. The primary influence of the jerker gene appears to be on the apical hair cells, not development of neural structures. Heterozygous jerker mice undergo a similar type of degeneration, but the onset is delayed. Auditory brainstem response is totally absent in homozygotes while heterozygous mice undergo a progressive impairment with age.

Flexed tail homozygotes can be identified hematologically as earlyas embryonic day 13 and are detectably paler than normal by embryonic day 16, with most paler than normal by embryonic day 15. Homozygotes are small at birth and have a transitory siderocytic hypochromic anemia due to defective heme synthesis in fetal but not adult reticulocytes. Fetal erythrocytes have more alpha hemoglobin synthesis than beta hemoglobin synthesis. Very high numbers of siderocytes are found at birth and this decreases during the first few weeks of life and stabilizes at approximately 3 weeks of age with 3% siderocytes, significantly higher than in wildtype adults. Most homozygotes have a belly spot and 1 to 5 flexures in the tail due to vertebral fusions. Vertebral fusions are also found elsewhere in the vertebral column. Fewer than expected homozygotes are generated indicating prenatal death and the postnatal death rate is approximately 4 times normal. A small minority of homozygotes have been found to have embryonic neural tube defects or a dorsal enlargement of the head. JE/Le mice are also homozygous for the nonagouti (a) and ruby-eye (Hps6ru) mutations.

Control Information

  Control
   Heterozygote from the colony No control available for f
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Hps6ru allele
000103   B6.Cg-Hps6ru/J
000278   B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J
View Strains carrying   Hps6ru     (2 strains)

Strains carrying   f allele
000092   FL/1Re-KitW/J
000023   FL/1ReJ
000791   WB.Cg-f/J
View Strains carrying   f     (3 strains)

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

Phenotype

Phenotype Information

View Phenotypic Data

Phenotypic Data
Mouse Phenome Database
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.
Deafness, Autosomal Recessive 36, with or without Vestibular Involvement;   (ESPN)
Hermansky-Pudlak Syndrome 6; HPS6   (HPS6)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Espnje/Espn+

        JE/LeJ
  • hearing/vestibular/ear phenotype
  • reduced linear vestibular evoked potential
    • elevated threshold   (MGI Ref ID J:116914)

Espnje/Espnje

        JE/LeJ
  • hearing/vestibular/ear phenotype
  • absent linear vestibular evoked potential
    • VESPs are absent at the maximum stimulus intensity used   (MGI Ref ID J:116914)
  • decreased cochlear hair cell stereocilia number
    • the stereocilia degenerate shortly after birth   (MGI Ref ID J:122601)
    • the stereociliary degeneration appeared consistently more advanced in inner hair cells than that of outer hair cells   (MGI Ref ID J:122601)
  • increased or absent threshold for auditory brainstem response
    • ABR assessment on homozygotes at 5 to 6 weeks of age shows no signs of hearing   (MGI Ref ID J:78812)
  • short cochlear hair cell stereocilia
    • although stereocilia bundles were present at birth, the length and width of stereocilia at P0 were reduced   (MGI Ref ID J:122601)
    • the stereocilia on outer hair cells were significantly shorter   (MGI Ref ID J:122601)
  • thin cochlear hair cell stereocilia
  • behavior/neurological phenotype
  • abnormal reflex
    • abnormal drop reflex; mice do not demonstrate expected dorsoflexion and spread out the front paws when quickly lowered from ~20 cm above a table surface, while controls do exhibit this behavior   (MGI Ref ID J:116914)
  • impaired swimming
    • mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface   (MGI Ref ID J:116914)
  • nervous system phenotype
  • decreased cochlear hair cell stereocilia number
    • the stereocilia degenerate shortly after birth   (MGI Ref ID J:122601)
    • the stereociliary degeneration appeared consistently more advanced in inner hair cells than that of outer hair cells   (MGI Ref ID J:122601)
  • short cochlear hair cell stereocilia
    • although stereocilia bundles were present at birth, the length and width of stereocilia at P0 were reduced   (MGI Ref ID J:122601)
    • the stereocilia on outer hair cells were significantly shorter   (MGI Ref ID J:122601)
  • thin cochlear hair cell stereocilia

Espnje/? f/f Hps6ru/Hps6ru

        JE/LeJ
  • immune system phenotype
  • abnormal mast cell degranulation
    • although the rate and extent of mast cell degranulation when triggered by GTPgammaS is not significantly abnormal, the cell membrane capacitance changes of mast cells, reflective of exoctyosis, show approximately three times more transient fusion events than normal and the dwell time of the transient fusion events is increased   (MGI Ref ID J:37255)
  • hematopoietic system phenotype
  • abnormal mast cell degranulation
    • although the rate and extent of mast cell degranulation when triggered by GTPgammaS is not significantly abnormal, the cell membrane capacitance changes of mast cells, reflective of exoctyosis, show approximately three times more transient fusion events than normal and the dwell time of the transient fusion events is increased   (MGI Ref ID J:37255)

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

Espnje/Espn+

        involves: fancier's dancing mouse
  • hearing/vestibular/ear phenotype
  • abnormal cochlear hair cell morphology
    • hair cell pathology is present to varying degrees, sometimes scattered, and sometimes uniform along the entire organ of Corti   (MGI Ref ID J:1646)
    • abnormal cochlear hair cell stereociliary bundle morphology
      • at 12 months of age, stereocilia show loss of tonus, disarray, blunting and dispersion; the cuticular plate is sometimes split   (MGI Ref ID J:1646)
      • abnormal inner hair cell stereociliary bundle morphology
        • at 12 months of age, the stereocilia of the IHCs is frequently missing and replaecd with giant hair cells   (MGI Ref ID J:1646)
    • cochlear hair cell degeneration   (MGI Ref ID J:1646)
      • cochlear inner hair cell degeneration
        • at 12 months of age, IHC loss is evely distributed along the organ of Corti   (MGI Ref ID J:1646)
      • cochlear outer hair cell degeneration
        • at 12 months of age, outer hair cell loss occurs more frequently at the upper part of the cochlea that elsewhere   (MGI Ref ID J:1646)
  • increased or absent threshold for auditory brainstem response
    • in Espnje/+ mice ABR undergoes a progressive impairment with age, semiquantitatively correlated with pathology of the hair cells   (MGI Ref ID J:1646)
  • nervous system phenotype
  • abnormal cochlear hair cell morphology
    • hair cell pathology is present to varying degrees, sometimes scattered, and sometimes uniform along the entire organ of Corti   (MGI Ref ID J:1646)
    • abnormal cochlear hair cell stereociliary bundle morphology
      • at 12 months of age, stereocilia show loss of tonus, disarray, blunting and dispersion; the cuticular plate is sometimes split   (MGI Ref ID J:1646)
      • abnormal inner hair cell stereociliary bundle morphology
        • at 12 months of age, the stereocilia of the IHCs is frequently missing and replaecd with giant hair cells   (MGI Ref ID J:1646)
    • cochlear hair cell degeneration   (MGI Ref ID J:1646)
      • cochlear inner hair cell degeneration
        • at 12 months of age, IHC loss is evely distributed along the organ of Corti   (MGI Ref ID J:1646)
      • cochlear outer hair cell degeneration
        • at 12 months of age, outer hair cell loss occurs more frequently at the upper part of the cochlea that elsewhere   (MGI Ref ID J:1646)

Espnje/Espnje

        involves: fancier's stocks
  • behavior/neurological phenotype
  • abnormal locomotor behavior
    • decrease in the frequency of wire mesh climbing in males   (MGI Ref ID J:133042)
    • abnormal gait
      • waddling gait   (MGI Ref ID J:133042)
    • decreased vertical activity
      • no rearing behavior is seen in males   (MGI Ref ID J:133042)
  • abnormal response to novelty
    • decrease in the frequency of digging, forepaw vibrations, wall leans, hair fluffing, fur shaking, and staring at the observer is seen in males   (MGI Ref ID J:133042)
  • abnormal stationary movement
    • decrease in the frequency of single forepaw lifts in males   (MGI Ref ID J:133042)
  • circling   (MGI Ref ID J:133042)
  • decreased grooming behavior
    • reduced frequency of grooming in males   (MGI Ref ID J:133042)
  • tremors   (MGI Ref ID J:133042)
  • digestive/alimentary phenotype
  • abnormal defecation
    • reduced frequency in males   (MGI Ref ID J:133042)
  • hearing/vestibular/ear phenotype
  • deafness   (MGI Ref ID J:133042)

Espnje/Espnje

        involves: CZECHII/EiJ * JE/LeJ
  • hearing/vestibular/ear phenotype
  • abnormal vestibular system physiology
    • a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers   (MGI Ref ID J:78812)
  • increased or absent threshold for auditory brainstem response
    • ABR assessment on F2 homozygotes at 5 to 6 weeks of age shows no signs of hearing indicating an absence of ameliorating modifiers   (MGI Ref ID J:78812)

Espnje/Espnje

        involves: CAST/EiJ * JE/LeJ
  • hearing/vestibular/ear phenotype
  • abnormal vestibular system physiology
    • a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers   (MGI Ref ID J:78812)
  • increased or absent threshold for auditory brainstem response
    • ABR assessment on F2 homozygotes at 5 to 6 weeks of age shows no signs of hearing indicating an absence of ameliorating modifiers   (MGI Ref ID J:78812)

Espnje/Espnje

        involves: DBA/2J * JE/LeJ
  • hearing/vestibular/ear phenotype
  • abnormal vestibular system physiology
    • a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers   (MGI Ref ID J:78812)
  • increased or absent threshold for auditory brainstem response
    • ABR assessment on F2 homozygotes at 5 to 6 weeks of age shows no signs of hearing indicating an absence of ameliorating modifiers   (MGI Ref ID J:78812)

Espnje/Espnje

        involves: BALB/cByJ * JE/LeJ
  • hearing/vestibular/ear phenotype
  • abnormal vestibular system physiology
    • a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers   (MGI Ref ID J:78812)
  • increased or absent threshold for auditory brainstem response
    • ABR assessment on F2 homozygotes at 5 to 6 weeks of age shows no signs of hearing indicating an absence of ameliorating modifiers   (MGI Ref ID J:78812)

Espnje/Espnje

        involves: A/J * JE/LeJ
  • hearing/vestibular/ear phenotype
  • abnormal vestibular system physiology
    • a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers   (MGI Ref ID J:78812)
  • increased or absent threshold for auditory brainstem response
    • ABR assessment on F2 homozygotes at 5 to 6 weeks of age shows no signs of hearing indicating an absence of ameliorating modifiers   (MGI Ref ID J:78812)

Espnje/Espnje

        involves: 129X1/SvJ * JE/LeJ
  • hearing/vestibular/ear phenotype
  • abnormal vestibular system physiology
    • a normal ratio of F2 offspring display the abnormal vestibular phenotype indicating the absence of ameliorating modifiers   (MGI Ref ID J:78812)
  • increased or absent threshold for auditory brainstem response
    • ABR assessment on F2 homozygotes at 5 to 6 weeks of age shows no signs of hearing indicating an absence of ameliorating modifiers   (MGI Ref ID J:78812)
View Research Applications

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

Espnje related

Neurobiology Research
Ataxia (Movement) Defects
Hearing Defects

Sensorineural Research
Hearing Defects

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

f related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Neural Tube Defects
Skeletal Defects

Hematological Research
Anemia, Iron Deficiency and Transport Defects
      microcytic
Hematopoietic Defects

Neurobiology Research
Neural Tube Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Espnje
Allele Name jerker
Allele Type Spontaneous
Common Name(s) je;
Strain of Originfancier's dancing mouse
Gene Symbol and Name Espn, espin
Chromosome 4
Gene Common Name(s) DFNB36; Je; je; jerker;
Molecular Note A single nucleotide deletion (G) at position 2426 of the Espn gene results in a frameshift mutation and premature stop in the C-terminal actin binding domain. Normal levels of mRNA are observed, but no accumulation of protein is observed in the jerker mouse. [MGI Ref ID J:53411]
 
Allele Symbol Hps6ru
Allele Name ruby-eye
Allele Type Spontaneous
Common Name(s) ru;
Strain of OriginDanforth's Stock a Pmel Ednrb
Gene Symbol and Name Hps6, Hermansky-Pudlak syndrome 6
Chromosome 19
Gene Common Name(s) 5330434M19Rik; BLOC-2; Hsp6; RIKEN cDNA 5330434M19 gene; ru; ruby eye; ruby-eye;
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 f
Allele Name flexed tail
Allele Type Spontaneous
Mutation Made By Mark Fleming,   Children's Hospital Boston
Gene Symbol and Name f, flexed-tail
Chromosome 13
General Note

The flexed-tail mutation appeared in a stock maintained by Dr. H.R. Hunt at Michigan State College (J:12951). Homozygotes are small at birth and have a transitory hypochromic, microcytic anemia characterized by a large number of siderocytes containing non-heme iron granules. Most homozygotes also have flexed tail and a belly spot, but these are not constant manifestations of the mutant. Because of the anemia there is probably greater postnatal mortality among f/f than among normal mice (J:14979).

The anemia begins on the 12th day of embryonic life when the liver first starts to produce blood cells (J:14979). It is most intense at 15 days of gestation and still severe at birth, but by 2 weeks of age has disappeared. Although adults have normal blood values, their response to hemopoietic stress is defective (J:5439, J:27511).

The results of numerous studies have led to the conclusion that the prenatal deficiency in number of erythrocytes and the defective response of adult erythropoietic cells are due to a delay in maturation of already committed erythroid stem cells, and that earlier uncommitted precursors are unaffected by f (J:5439, J:5654, J:5582).

An additional effect of f in homozygotes is defective heme synthesis, which occurs in fetal reticulocytes but not in adult reticulocytes nor in erythroblasts at earlier stages of maturation. In fetal reticulocytes there is normal uptake of iron but poor incorporation into hemoglobin (J:5439), probably as a result of reduced activity ofdelta-aminolevulinate synthetase and dehydratase (J:5591).

Fetal erythrocytes of f/f mice have more alpha than beta globin chains. In both f/f and wild-type fetal erythrocytes there is more alpha- than beta-chain mRNA; probably some regulatory mechanism bringing about equal alpha- and beta-chain synthesis exists in wild-type mice but is defective in f/f (J:5827, J:30711).

The tail abnormalities are first noticeable on the 14th day of gestation as abnormal differentiation of the intervertebral discs (J:13090). The possibility that abnormal heme synthesis could cause the tail and pigment defects in f/f mice has been discussed (J:5591).

It was suggested that flexed-tail might be a mutation in the mouse homolog Fancc of the gene defective in human Fanconi anemia, complementation group C, but no mutation in the Fancc gene or abnormalities in Fancc mRNA have been detected in f/f mutants (J:13598). Also, flexed-tail mice are not susceptible to increases in chromosomal aberrations induced by mitomycin C, a characteristic of Fancc mutant mice (J:35839).

This allele arose on a genetically undefined stock in 1927 and was subsequently transferred onto several genetic backgrounds to create the congenic and recombinant inbred lines Je/Le-f/f, FL1/ReJ, WB/ReJ-f/f and C57BL/6J-f/f. The phenotypes listed above might be associated with any of these strains; in most cases it was not specified.

Molecular Note Note that two conflicting reports (J:68377 and J:98445/J:128616) state that the underlying genetic defect in the flexed tail mouse is either in the Sfxn1 or the Smad5 gene. [MGI Ref ID J:128616] [MGI Ref ID J:68377] [MGI Ref ID J:98445]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Zheng L; Sekerkova G; Vranich K; Tilney LG; Mugnaini E; Bartles JR. 2000. The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins. Cell 102(3):377-85. [PubMed: 10975527]  [MGI Ref ID J:53411]

Additional References

Kim HJ; Jackson T; Noben-Trauth K. 2003. Genetic analyses of the mouse deafness mutations varitint-waddler (va) and jerker (espnje). J Assoc Res Otolaryngol 4(1):83-90. [PubMed: 12209292]  [MGI Ref ID J:78812]

Sjostrom B. 1994. Cochlear synaptic development and morphology in a genetically induced type of progressive hair cell degeneration. ORL J Otorhinolaryngol Relat Spec 56(3):119-24. [PubMed: 8202309]  [MGI Ref ID J:19587]

Sjostrom B; Anniko M. 1992. Cochlear structure and function in a recessive type of genetically induced inner ear degeneration. ORL J Otorhinolaryngol Relat Spec 54(4):220-8. [PubMed: 1484706]  [MGI Ref ID J:20708]

Steel KP; Bock GR. 1983. Cochlear dysfunction in the jerker mouse. Behav Neurosci 97(3):381-91. [PubMed: 6871029]  [MGI Ref ID J:7124]

Zerr P; Martin B; Adelman JP. 2000. The murine Bis1 seizure gene and the Kcnab2 gene encoding the beta2-subunit of the K+ channel are different. Neurogenetics 2(4):231-4. [PubMed: 10983719]  [MGI Ref ID J:82183]

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]

Espnje related

Cabraja M; Baurle J. 2007. Vestibular ganglion neurons survive hair cell defects in jerker, shaker, and Varitint-waddler mutants and downregulate calretinin expression. J Comp Neurol 504(4):418-26. [PubMed: 17663432]  [MGI Ref ID J:132913]

Calderon A; Derr A; Stagner BB; Johnson KR; Martin G; Noben-Trauth K. 2006. Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse. Hear Res 221(1-2):44-58. [PubMed: 16962269]  [MGI Ref ID J:113021]

Deol MS. 1954. The anomalies of the labyrinth of the mutants varitint-waddler, shaker-2 and jerker in the mouse. J Genet 52:562-588.  [MGI Ref ID J:13046]

Gruneberg H; Burnett JB; Snell GD. 1941. The origin of jerker, a new gene mutation of the house mouse, and linkage studies made with it. Proc Natl Acad Sci U S A 27(12):562-565. [PubMed: 16588504]  [MGI Ref ID J:13121]

Jones SM; Johnson KR; Yu H; Erway LC; Alagramam KN; Pollak N; Jones TA. 2005. A quantitative survey of gravity receptor function in mutant mouse strains. J Assoc Res Otolaryngol 6(4):297-310. [PubMed: 16235133]  [MGI Ref ID J:116914]

KOCHER W. 1960. [Studies on the genetics and pathology of the development of 8 labyrinth mutants (deaf-waltzer-shaker mutants) in the mouse (Mus musculus).] Z Vererbungsl 91:114-40. [PubMed: 13853422]  [MGI Ref ID J:15164]

Kim HJ; Jackson T; Noben-Trauth K. 2003. Genetic analyses of the mouse deafness mutations varitint-waddler (va) and jerker (espnje). J Assoc Res Otolaryngol 4(1):83-90. [PubMed: 12209292]  [MGI Ref ID J:78812]

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]

Rzadzinska A; Schneider M; Noben-Trauth K; Bartles JR; Kachar B. 2005. Balanced levels of Espin are critical for stereociliary growth and length maintenance. Cell Motil Cytoskeleton 62(3):157-65. [PubMed: 16206170]  [MGI Ref ID J:122601]

Sekerkova G; Zheng L; Mugnaini E; Bartles JR. 2006. Differential expression of espin isoforms during epithelial morphogenesis, stereociliogenesis and postnatal maturation in the developing inner ear. Dev Biol 291(1):83-95. [PubMed: 16413524]  [MGI Ref ID J:106389]

Sjostrom B. 1994. Cochlear and vestibular pathology of the jerker mouse mutant. An animal model for recessive deafness. In: Umea University Medical Dissertations. Solfjadern Offset AB, Umea, Sweden.  [MGI Ref ID J:20651]

Sjostrom B. 1994. Cochlear synaptic development and morphology in a genetically induced type of progressive hair cell degeneration. ORL J Otorhinolaryngol Relat Spec 56(3):119-24. [PubMed: 8202309]  [MGI Ref ID J:19587]

Sjostrom B; Anniko M. 1992. Cochlear structure and function in a recessive type of genetically induced inner ear degeneration. ORL J Otorhinolaryngol Relat Spec 54(4):220-8. [PubMed: 1484706]  [MGI Ref ID J:20708]

Sjostrom B; Anniko M. 1992. Genetically induced inner ear degeneration. A structural and functional study. Acta Otolaryngol Suppl (Stockh) 493:141-6. [PubMed: 1636414]  [MGI Ref ID J:1646]

Steel KP; Bock GR. 1983. Cochlear dysfunction in the jerker mouse. Behav Neurosci 97(3):381-91. [PubMed: 6871029]  [MGI Ref ID J:7124]

Zerr P; Martin B; Adelman JP. 2000. The murine Bis1 seizure gene and the Kcnab2 gene encoding the beta2-subunit of the K+ channel are different. Neurogenetics 2(4):231-4. [PubMed: 10983719]  [MGI Ref ID J:82183]

van Abeelen JH. 1966. Behavioural profiles of neurological mutant mice. Genetica 37(2):149-58. [PubMed: 5955164]  [MGI Ref ID J:133042]

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]

Huang ZM; Chinen M; Chang PJ; Xie T; Zhong L; Demetriou S; Patel MP; Scherzer R; Sviderskaya EV; Bennett DC; Millhauser GL; Oh DH; Cleaver JE; Wei ML. 2012. Targeting protein-trafficking pathways alters melanoma treatment sensitivity. Proc Natl Acad Sci U S A 109(2):553-8. [PubMed: 22203954]  [MGI Ref ID J:179983]

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]

Rachel RA; Nagashima K; O'Sullivan TN; Frost LS; Stefano FP; Marigo V; Boesze-Battaglia K. 2012. Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis. PLoS One 7(9):e42446. [PubMed: 22984402]  [MGI Ref ID J:191882]

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]

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

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]

f related

Bannerman RM; Edwards JA; Pinkerton PH. 1973. Hereditary disorders of the red cell in animals. Prog Hematol 8:131-79. [PubMed: 4596202]  [MGI Ref ID J:5439]

Bernstein SE. 1969. Hereditary disorders of the rodent erythron. In: Genetics in Laboratory Animal Medicine. Natl Acad Sci Publ, Washington, DC.  [MGI Ref ID J:30699]

Chui DH; Patterson M; Bayley ST. 1977. Unequal alpha and beta globin mRNA in reticulocytes of normal and mutant (f/f) fetal mice Blood 50(Suppl 1):104 (Abstr.).  [MGI Ref ID J:30711]

Chui DH; Sweeney GD; Patterson M; Russell ES. 1977. Hemoglobin synthesis in siderocytes of flexed-tailed mutant (f/f) fetal mice. Blood 50(1):165-77. [PubMed: 559515]  [MGI Ref ID J:5827]

Cole RJ; Garlick J; Cheek EM. 1975. Activities of haem synthetic enzymes in blood cells of pre-natal flexed-tailed (f/f) anaemic mice. J Embryol Exp Morphol 34(2):373-86. [PubMed: 1194836]  [MGI Ref ID J:5591]

Cole RJ; Regan T. 1976. Haemopoietic progenitor cells in prenatal congenitally anaemic 'flexed-tailed' (f/f) mice. Br J Haematol 33(3):387-94. [PubMed: 1276083]  [MGI Ref ID J:5654]

Coleman DL; Russell ES; Levin EY. 1969. Enzymatic studies of the hemopoietic defect in flexed mice. Genetics 61(3):631-42. [PubMed: 5393940]  [MGI Ref ID J:152369]

Fleming MD; Campagna DR; Haslett JN; Trenor CC 3rd; Andrews NC. 2001. A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice. Genes Dev 15(6):652-7. [PubMed: 11274051]  [MGI Ref ID J:68377]

Gregory CJ; McCulloch EA; Till JE. 1975. The cellular basis for the defect in haemopoiesis in flexed-tailed mice. III. Restriction of the defect to erythropoietic progenitors capable of transient colony formation in vivo. Br J Haematol 30(4):401-10. [PubMed: 1201223]  [MGI Ref ID J:5582]

Gruneberg H. 1942. The anaemia of flexed-tailed mice (Mus musculus L.). II. Siderocytes J Genet 44:246-71.  [MGI Ref ID J:14979]

Gruneberg H. 1942. The anaemia of flexed-tailed mice (mus musculus L) J Genet 43:45-68.  [MGI Ref ID J:164714]

Hegde S; Lenox LE; Lariviere A; Porayette P; Perry JM; Yon M; Paulson RF. 2007. An intronic sequence mutated in flexed-tail mice regulates splicing of Smad5. Mamm Genome 18(12):852-60. [PubMed: 18060457]  [MGI Ref ID J:128616]

Hunt HR; Mixter R; Permar D. 1933. Flexed Tail in the Mouse, Mus Musculus. Genetics 18(4):335-66. [PubMed: 17246696]  [MGI Ref ID J:12951]

Kamenoff RJ. 1935. Effects of the flexed-tailed gene on the development of the house mouse. J Morphol 58:117-155.  [MGI Ref ID J:13090]

Kreimer-Birnbaum M; Bannerman RM; Russell ES; Bernstein SE. 1972. Pyrrole pigments in normal and congenitally anaemic mice (+:+, W-W v , ha-ha, nb-nb, mk-mk, f-f and sla-Y). Comp Biochem Physiol A 43(1):21-30. [PubMed: 4404581]  [MGI Ref ID J:31039]

Lenox LE; Perry JM; Paulson RF. 2005. BMP4 and Madh5 regulate the erythroid response to acute anemia. Blood 105(7):2741-8. [PubMed: 15591122]  [MGI Ref ID J:98445]

Lenox LE; Shi L; Hegde S; Paulson RF. 2009. Extramedullary erythropoiesis in the adult liver requires BMP-4/Smad5-dependent signaling. Exp Hematol 37(5):549-58. [PubMed: 19375646]  [MGI Ref ID J:151008]

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]

Porayette P; Paulson RF. 2008. BMP4/Smad5 dependent stress erythropoiesis is required for the expansion of erythroid progenitors during fetal development. Dev Biol 317(1):24-35. [PubMed: 18374325]  [MGI Ref ID J:136155]

Russell ES. 1970. Abnormalities of erythropoiesis associated with mutant genes in mice. In: Regulation of Hematopoiesis. Appleton-Century-Crofts, New York.  [MGI Ref ID J:27511]

Russell ES. 1979. Hereditary anemias of the mouse: a review for geneticists. Adv Genet 20:357-459. [PubMed: 390999]  [MGI Ref ID J:25355]

Russell ES; Bernstein SE. 1966. Blood and Blood Formation. In: Biology of the Laboratory Mouse. McGraw Hill, New York.  [MGI Ref ID J:24829]

Russell ES; McFarland EC. 1966. Analysis of pleiotropic effects of W and f genic substitutions in the mouse. Genetics 53(5):949-59. [PubMed: 5929249]  [MGI Ref ID J:24610]

Sotelo C. 1990. Axonal abnormalities in cerebellar Purkinje cells of the 'hyperspiny Purkinje cell' mutant mouse. J Neurocytol 19(5):737-55. [PubMed: 2077114]  [MGI Ref ID J:106784]

Urlando C; Krasnoshtein F; Heddle JA; Buchwald M. 1996. Assessment of the flexed-tail mouse as a possible model for Fanconi anemia: analysis of mitomycin C-induced micronuclei. Mutat Res 370(2):99-106. [PubMed: 8879267]  [MGI Ref ID J:35839]

Wevrick R; Barker JE; Nadeau JH; Szpirer C; Buchwald M. 1993. Mapping of the murine and rat Facc genes and assessment of flexed-tail as a candidate mouse homolog of Fanconi anemia group C. Mamm Genome 4(8):440-4. [PubMed: 7690622]  [MGI Ref ID J:13598]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

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

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


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

Cryopreserved

Cryopreserved Mice - Ready for Recovery

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

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

Standard Supply

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

Supply Notes

  • Cryorecovery - 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 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

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

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

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

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

Standard Supply

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

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

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

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

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

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

General Supply Notes

  • View the complete collection of spontaneous mutants in the Mouse Mutant Resource.

Control Information

  Control
   Heterozygote from the colony No control available for f
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

Important Note

This strain is homozygous for f and Hps6ru and segregating for Espnje.

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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.


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The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
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phone:207-288-6470

JAX® Mice, Products & Services Conditions of Use

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

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


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