Strain Name:

B6.Cg-Whrnwi Tyrp1b/+ +/J

Stock Number:

000571

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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 B6.Cg-wi Tyrp1b/+ +/J    (Changed: 15-DEC-04 )
Type Congenic; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
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Additional information on Congenic nomenclature.
Specieslaboratory mouse
Background Strain C57BL/6J
Donor Strain Whrnwi , Holman's recessive stock; Tyrp1b , Holman's recessive stock
GenerationN16p
Generation Definitions

Description
At 9 to 10 days of age Whrnwi homozygotes display increased activity, decreased ability to right their selves, and are generally smaller than unaffected siblings. By 14 to 16 days of age homozygotes display head bobbing, circling, and an unsteady gate. Adults display head tossing and circling behavior and deafness is indicated by 20 days of age. Sackler and Weltman reported the average number of circles by a prodded 12-week old female homozygote to be 407 in 10 minutes. They found female homozygotes to have an increased metabolic rate and adrenocorticosteroid activity and decreased body weights. Homozygous males were reported to have decreased blood glucose and liver glycogen levels, decreased white blood cell and eosinophil counts, increased plasma albumin levels, and decreased globulin levels, in addition to decreased weight and increased food intake. (Lane 1963; Sackler and Weltman 1967, 1970, 1971.)

While the organ of Corti in whirler homozygotes shows normal gross cellular architecture at postnatal day (P) 35, stereocilia are shorter and stubbier. The inner hair cells have shorter stereocila as early as embryonic day (E) 18.5, are less than half the length of wild type by P5, and the normal graded variation in length and width along stereocilia ranks is diminished. While normal outer hair cell stereocillia develop a W-shaped array of ranks with a basal to apical increase in length, the outer hair cell stereocilia in whirler homozygotes develop a U-shaped or V-shaped array and the variation in length is diminished. The outer hair cells begin to degenerate by P60 while inner hair cells take longer to show degeneration, but both are undergoing degeneration by P80. (Kiernan et al., 1998; Holme et al., 2002.)

Development
The wi mutation arose spontaneously in approximately 1955 in a multiple recessive stock homozygous for a, Tyrp1b, Myo5ad, Oca2p, and Ednrbs in the laboratory of Dr. Meredith N. Runner. This was the HO stock received from Dr. Holman. The phenotype was initially identified in a single male that was then outcrossed to C57BL/6J and the offspring were intercrossed once, non-sibling intercrossed once, then sibling mated to F5 before being maintained by backcross-intercross to C57BL/6J until N7. They were then maintained primarily by sibling intercross with occasional backcross to a parent until they were transferred to Dr. Eva Eicher in 1971. This strain has been maintained with Whrnwi in coupling with Tyrp1b from the original stock background on which the Whrnwi mutation arose. In 1981 N15F8 Whrnwi Tyrp1b/Whrnwi Tyrp1b males were bred with C57BL/6J females to generate embryos for cryopreservation.

Related Strains

Strains carrying   Tyrp1b allele
000004   ABP/LeJ
000027   B6.D-Tyrp1b Dock7m/J
000670   DBA/1J
000265   MY/HuLeJ
001045   SI/Col Tyrp1b Dnah11iv/J
000064   STOCK a Tyrp1b Pmelsi/J
002238   STOCK a Tyrp1b shmy/J
001432   STOCK a/a Tyrp1b Ndc1sks/Tyrp1b +/J
000594   STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
001101   STOCK T(3;4)5Rk Tyrp1b/J
View Strains carrying   Tyrp1b     (10 strains)

Strains carrying other alleles of Tyrp1
000957   AKXD28/TyJ
000093   B6.B10(D1)-Tyrp1b-c/J
008684   B6.Cg-Rag1tm1Mom Tyrp1B-w Tg(Tcra,Tcrb)9Rest/J
017764   B6Ei.LT-Y(IsXPAR;Y)Ei Tyrp1B-lt/EiJ
000068   C57BL/6J-Tyrp1b-J/J
000671   DBA/2J
006252   LT/SvEiJ
002142   STOCK 11R30m/J
000594   STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
View Strains carrying other alleles of Tyrp1     (9 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Deafness, Autosomal Recessive 31; DFNB31
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Albinism, Oculocutaneous, Type III; OCA3   (TYRP1)
Usher Syndrome, Type Iid; USH2D   (DFNB31)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

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

Whrnwi/Whrn+

        involves: C57BL/6J * STOCK a Tyrp1b Myo5ad Oca2p Ednrbs
  • hearing/vestibular/ear phenotype
  • abnormal cochlear inner hair cell morphology   (MGI Ref ID J:77939)
    • short inner hair cell stereocilia
      • the stereocilia of inner hair cells in heterozygotes are slightly shorter at P35   (MGI Ref ID J:77939)
      • by P80 no hair cells are degenerating in the cochlear duct of heterozygotes unlike in homozygotes   (MGI Ref ID J:77939)
  • nervous system phenotype
  • abnormal cochlear inner hair cell morphology   (MGI Ref ID J:77939)
    • short inner hair cell stereocilia
      • the stereocilia of inner hair cells in heterozygotes are slightly shorter at P35   (MGI Ref ID J:77939)
      • by P80 no hair cells are degenerating in the cochlear duct of heterozygotes unlike in homozygotes   (MGI Ref ID J:77939)

Whrnwi/Whrn+

        Background Not Specified
  • homeostasis/metabolism phenotype
  • decreased circulating creatine kinase level   (MGI Ref ID J:175295)
  • increased circulating HDL cholesterol level   (MGI Ref ID J:175295)
  • increased circulating amylase level   (MGI Ref ID J:175295)
  • increased circulating calcium level   (MGI Ref ID J:175295)
  • increased circulating serum albumin level   (MGI Ref ID J:175295)
  • increased circulating total protein level   (MGI Ref ID J:175295)
  • increased lactate dehydrogenase level   (MGI Ref ID J:175295)
  • pigmentation phenotype
  • abnormal retinal pigmentation   (MGI Ref ID J:175295)
  • vision/eye phenotype
  • abnormal retina morphology   (MGI Ref ID J:175295)
    • abnormal retinal pigmentation   (MGI Ref ID J:175295)

Whrnwi/Whrnwi

        involves: C57BL/6J * STOCK a Tyrp1b Myo5ad Oca2p Ednrbs
  • adipose tissue phenotype
  • decreased total body fat amount
    • there is a noticeable deficiency of adipose tissue in the abdominal cavity   (MGI Ref ID J:5538)
  • behavior/neurological phenotype
  • abnormal gait
    • at P14 to P16 the gait is unsteady and mutants constantly topple over   (MGI Ref ID J:269)
  • abnormal maternal nurturing
    • females tend to trample their young   (MGI Ref ID J:269)
  • circling   (MGI Ref ID J:269)
  • head bobbing   (MGI Ref ID J:48657)
    • this behavior is noticeable at P14 to P16   (MGI Ref ID J:269)
  • head tossing   (MGI Ref ID J:5037)
    • this behavior is seen in adults   (MGI Ref ID J:269)
  • hyperactivity
    • mutants are restless and excitable   (MGI Ref ID J:5037)
  • impaired righting response
    • at P9 to P10 when placed on their backs mutants take longer to return to an upright position   (MGI Ref ID J:269)
  • impaired swimming
    • some mutants at weaning age can swim if the head is not submerged   (MGI Ref ID J:269)
    • adults can not swim   (MGI Ref ID J:269)
  • cardiovascular system phenotype
  • increased heart weight
    • the heart weight at 16 weeks in male mutants is significantly larger   (MGI Ref ID J:5538)
  • endocrine/exocrine gland phenotype
  • decreased seminal vesicle weight
    • the seminal vesicle weight at 16 weeks in male mutants is significantly smaller   (MGI Ref ID J:5538)
  • enlarged adrenal glands
    • the adrenal weight at 3.5, 10, and 18 months in female mutants is significantly higher   (MGI Ref ID J:5037)
    • the adrenal weight at 16 weeks in male mutants is significantly higher   (MGI Ref ID J:5538)
  • growth/size/body phenotype
  • decreased body weight
    • at P9 to P10 and P14 to P16 mutants are smaller   (MGI Ref ID J:269)
    • the body weight at 3.5 and 18 months in female mutants is significantly lower   (MGI Ref ID J:5037)
    • the body weight at 13 to 16 weeks in male mutants is significantly lower   (MGI Ref ID J:5538)
  • decreased total body fat amount
    • there is a noticeable deficiency of adipose tissue in the abdominal cavity   (MGI Ref ID J:5538)
  • hearing/vestibular/ear phenotype
  • abnormal cochlear hair cell stereociliary bundle morphology
    • the specialized microvilli (stereocilia) that project from the apical surface of the inner and outer hair cells are abnormal   (MGI Ref ID J:77939)
    • abnormal outer hair cell stereociliary bundle morphology
      • outer hair cells appear normal until P4   (MGI Ref ID J:77939)
      • on P4 the stereocilia are arranged in a U-shaped pattern rather than the normal W-shaped pattern   (MGI Ref ID J:77939)
      • in mutants on P15 and P35 stereocilia height within a rank of outer hair cells is irregular instead of uniform   (MGI Ref ID J:77939)
      • an increase in diameter and variable heights within bundles   (MGI Ref ID J:122600)
      • at P5 (but not at P3), the center of the developing W-shape of OHC stereocilia still contains excess microvilli which have not yet been absorbed, indicating delayed development of OHC stereociliary bundles   (MGI Ref ID J:48657)
      • at P10, the extra OHC microvilli in the center of the W-shape have not yet cleared totally in the apical turn but have disappeared in the basal turn, while kinocilia are still present but regress by P15   (MGI Ref ID J:48657)
      • outer hair bundles exhibit a linear rather than V-shaped configuration unlike in wild-type mice   (MGI Ref ID J:158897)
      • decreased outer hair cell stereocilia number
        • the number of outer hair cell stereocilia was sgnificantly reduced   (MGI Ref ID J:122600)
        • the center-to-center spacing between the stereocilia was greater   (MGI Ref ID J:122600)
      • short outer hair cell stereocilia   (MGI Ref ID J:158897)
    • short inner hair cell stereocilia
      • overall the stereocilia of inner hair cells in mutants are significantly shorter at E18.5, P1, and P35   (MGI Ref ID J:77939)
      • the length of stereocilia on inner hair cells in mutants decreases between P1 and P4 and between P4 and P35 rather than increasing   (MGI Ref ID J:77939)
      • the morphological differences between stereocilia in different ranks of inner hair cells are not as prominent in mutants at P35   (MGI Ref ID J:77939)
      • however in mutants the stereocilia at the center of a rank are still significantly taller than those on the edge as is seen in controls   (MGI Ref ID J:77939)
      • stereocilia of inner hair cells are short with larger diameters without a corresponding increase in the number of actin filaments at P20   (MGI Ref ID J:122600)
      • from P5 onwards, IHCs are abnormal with many short, stubby stereocilia, although the kinocilium is correctly positioned and of normal length   (MGI Ref ID J:48657)
  • abnormal cochlear inner hair cell morphology
    • from P5 up to P40, all IHCs along the entire length of the cochlea are similarly affected, with many abnormal stereocilia   (MGI Ref ID J:48657)
    • cochlear inner hair cell degeneration
      • by P80 both outer hair cells and inner hair cells in the base of the cochlear duct are degenerating   (MGI Ref ID J:77939)
      • at P60, IHCs have still not degenerated or developed further; however, IHCs are degenerating at P80   (MGI Ref ID J:48657)
    • short inner hair cell stereocilia
      • overall the stereocilia of inner hair cells in mutants are significantly shorter at E18.5, P1, and P35   (MGI Ref ID J:77939)
      • the length of stereocilia on inner hair cells in mutants decreases between P1 and P4 and between P4 and P35 rather than increasing   (MGI Ref ID J:77939)
      • the morphological differences between stereocilia in different ranks of inner hair cells are not as prominent in mutants at P35   (MGI Ref ID J:77939)
      • however in mutants the stereocilia at the center of a rank are still significantly taller than those on the edge as is seen in controls   (MGI Ref ID J:77939)
      • stereocilia of inner hair cells are short with larger diameters without a corresponding increase in the number of actin filaments at P20   (MGI Ref ID J:122600)
      • from P5 onwards, IHCs are abnormal with many short, stubby stereocilia, although the kinocilium is correctly positioned and of normal length   (MGI Ref ID J:48657)
  • abnormal cochlear outer hair cell morphology
    • most outer hair cells exhibit a non-convex region on their apical circumference unlike wild-type cells   (MGI Ref ID J:158897)
    • outer hair cells exhibit a slight flattening of their neural sides compared to in wild-type mice   (MGI Ref ID J:158897)
    • abnormal outer hair cell stereociliary bundle morphology
      • outer hair cells appear normal until P4   (MGI Ref ID J:77939)
      • on P4 the stereocilia are arranged in a U-shaped pattern rather than the normal W-shaped pattern   (MGI Ref ID J:77939)
      • in mutants on P15 and P35 stereocilia height within a rank of outer hair cells is irregular instead of uniform   (MGI Ref ID J:77939)
      • an increase in diameter and variable heights within bundles   (MGI Ref ID J:122600)
      • at P5 (but not at P3), the center of the developing W-shape of OHC stereocilia still contains excess microvilli which have not yet been absorbed, indicating delayed development of OHC stereociliary bundles   (MGI Ref ID J:48657)
      • at P10, the extra OHC microvilli in the center of the W-shape have not yet cleared totally in the apical turn but have disappeared in the basal turn, while kinocilia are still present but regress by P15   (MGI Ref ID J:48657)
      • outer hair bundles exhibit a linear rather than V-shaped configuration unlike in wild-type mice   (MGI Ref ID J:158897)
      • decreased outer hair cell stereocilia number
        • the number of outer hair cell stereocilia was sgnificantly reduced   (MGI Ref ID J:122600)
        • the center-to-center spacing between the stereocilia was greater   (MGI Ref ID J:122600)
      • short outer hair cell stereocilia   (MGI Ref ID J:158897)
    • cochlear outer hair cell degeneration
      • by P60 outer hair cells are showing signs of degeneration   (MGI Ref ID J:77939)
      • by P80 both outer hair cells and inner hair cells in the base of the cochlear duct are degenerating   (MGI Ref ID J:77939)
      • by P80 only outer hair cells are degenerating in the apex of the cochlear duct   (MGI Ref ID J:77939)
      • although apparently normal at P15, OHCs start showing signs of degeneration from P60 onwards   (MGI Ref ID J:48657)
  • cochlear hair cell degeneration
    • at P80, both IHCs and OHCs are degenerating   (MGI Ref ID J:48657)
    • cochlear inner hair cell degeneration
      • by P80 both outer hair cells and inner hair cells in the base of the cochlear duct are degenerating   (MGI Ref ID J:77939)
      • at P60, IHCs have still not degenerated or developed further; however, IHCs are degenerating at P80   (MGI Ref ID J:48657)
    • cochlear outer hair cell degeneration
      • by P60 outer hair cells are showing signs of degeneration   (MGI Ref ID J:77939)
      • by P80 both outer hair cells and inner hair cells in the base of the cochlear duct are degenerating   (MGI Ref ID J:77939)
      • by P80 only outer hair cells are degenerating in the apex of the cochlear duct   (MGI Ref ID J:77939)
      • although apparently normal at P15, OHCs start showing signs of degeneration from P60 onwards   (MGI Ref ID J:48657)
  • deafness   (MGI Ref ID J:48657)
    • adults are deaf   (MGI Ref ID J:269)
    • adults are deaf   (MGI Ref ID J:5037)
  • homeostasis/metabolism phenotype
  • decreased circulating glucose level
    • the blood glucose levels are significantly lower at 16 weeks in male mutants   (MGI Ref ID J:5538)
  • decreased glycogen level
    • liver glycogen and liver phosphorylase levels are significantly lower at 16 weeks in male mutants   (MGI Ref ID J:5538)
  • increased circulating corticosterone level
    • consistent and significantly higher corticosterone levels in the plasma and adrenals   (MGI Ref ID J:5538)
    • corticosterone levels are higher in the adrenals when comparing per pair of adrenals or per 100 mg adrenals   (MGI Ref ID J:5538)
  • increased oxygen consumption
    • free and semi-restrained O2 consumption is increased at 12 and 14 weeks and 14 months   (MGI Ref ID J:5037)
    • free and semi-restrained O2 consumption is increased at 13 and 14 weeks respectively   (MGI Ref ID J:5538)
  • immune system phenotype
  • decreased leukocyte cell number
    • the white blood cell counts are significantly smaller at 15 weeks in male mutants   (MGI Ref ID J:5538)
  • decreased thymus weight
    • the thymus weight at 3.5 and 18 months in female mutants is significantly lower   (MGI Ref ID J:5037)
  • liver/biliary system phenotype
  • increased liver weight
    • the liver weight at 3.5 and 10 months in female mutants is significantly higher   (MGI Ref ID J:5037)
    • this difference is no longer significant at 18 months   (MGI Ref ID J:5037)
  • renal/urinary system phenotype
  • increased kidney weight
    • the kidney weight at 3.5 and 10 months in female mutants is significantly higher   (MGI Ref ID J:5037)
    • this difference is no longer significant at 18 months   (MGI Ref ID J:5037)
  • reproductive system phenotype
  • decreased seminal vesicle weight
    • the seminal vesicle weight at 16 weeks in male mutants is significantly smaller   (MGI Ref ID J:5538)
  • decreased uterus weight
    • the uterine weight at 3.5 months in female mutants is significantly smaller   (MGI Ref ID J:5037)
    • there is no significant difference at 10 and 18 months   (MGI Ref ID J:5037)
  • nervous system phenotype
  • abnormal cochlear hair cell stereociliary bundle morphology
    • the specialized microvilli (stereocilia) that project from the apical surface of the inner and outer hair cells are abnormal   (MGI Ref ID J:77939)
    • abnormal outer hair cell stereociliary bundle morphology
      • outer hair cells appear normal until P4   (MGI Ref ID J:77939)
      • on P4 the stereocilia are arranged in a U-shaped pattern rather than the normal W-shaped pattern   (MGI Ref ID J:77939)
      • in mutants on P15 and P35 stereocilia height within a rank of outer hair cells is irregular instead of uniform   (MGI Ref ID J:77939)
      • an increase in diameter and variable heights within bundles   (MGI Ref ID J:122600)
      • at P5 (but not at P3), the center of the developing W-shape of OHC stereocilia still contains excess microvilli which have not yet been absorbed, indicating delayed development of OHC stereociliary bundles   (MGI Ref ID J:48657)
      • at P10, the extra OHC microvilli in the center of the W-shape have not yet cleared totally in the apical turn but have disappeared in the basal turn, while kinocilia are still present but regress by P15   (MGI Ref ID J:48657)
      • outer hair bundles exhibit a linear rather than V-shaped configuration unlike in wild-type mice   (MGI Ref ID J:158897)
      • decreased outer hair cell stereocilia number
        • the number of outer hair cell stereocilia was sgnificantly reduced   (MGI Ref ID J:122600)
        • the center-to-center spacing between the stereocilia was greater   (MGI Ref ID J:122600)
      • short outer hair cell stereocilia   (MGI Ref ID J:158897)
    • short inner hair cell stereocilia
      • overall the stereocilia of inner hair cells in mutants are significantly shorter at E18.5, P1, and P35   (MGI Ref ID J:77939)
      • the length of stereocilia on inner hair cells in mutants decreases between P1 and P4 and between P4 and P35 rather than increasing   (MGI Ref ID J:77939)
      • the morphological differences between stereocilia in different ranks of inner hair cells are not as prominent in mutants at P35   (MGI Ref ID J:77939)
      • however in mutants the stereocilia at the center of a rank are still significantly taller than those on the edge as is seen in controls   (MGI Ref ID J:77939)
      • stereocilia of inner hair cells are short with larger diameters without a corresponding increase in the number of actin filaments at P20   (MGI Ref ID J:122600)
      • from P5 onwards, IHCs are abnormal with many short, stubby stereocilia, although the kinocilium is correctly positioned and of normal length   (MGI Ref ID J:48657)
  • abnormal cochlear inner hair cell morphology
    • from P5 up to P40, all IHCs along the entire length of the cochlea are similarly affected, with many abnormal stereocilia   (MGI Ref ID J:48657)
    • cochlear inner hair cell degeneration
      • by P80 both outer hair cells and inner hair cells in the base of the cochlear duct are degenerating   (MGI Ref ID J:77939)
      • at P60, IHCs have still not degenerated or developed further; however, IHCs are degenerating at P80   (MGI Ref ID J:48657)
    • short inner hair cell stereocilia
      • overall the stereocilia of inner hair cells in mutants are significantly shorter at E18.5, P1, and P35   (MGI Ref ID J:77939)
      • the length of stereocilia on inner hair cells in mutants decreases between P1 and P4 and between P4 and P35 rather than increasing   (MGI Ref ID J:77939)
      • the morphological differences between stereocilia in different ranks of inner hair cells are not as prominent in mutants at P35   (MGI Ref ID J:77939)
      • however in mutants the stereocilia at the center of a rank are still significantly taller than those on the edge as is seen in controls   (MGI Ref ID J:77939)
      • stereocilia of inner hair cells are short with larger diameters without a corresponding increase in the number of actin filaments at P20   (MGI Ref ID J:122600)
      • from P5 onwards, IHCs are abnormal with many short, stubby stereocilia, although the kinocilium is correctly positioned and of normal length   (MGI Ref ID J:48657)
  • abnormal cochlear outer hair cell morphology
    • most outer hair cells exhibit a non-convex region on their apical circumference unlike wild-type cells   (MGI Ref ID J:158897)
    • outer hair cells exhibit a slight flattening of their neural sides compared to in wild-type mice   (MGI Ref ID J:158897)
    • abnormal outer hair cell stereociliary bundle morphology
      • outer hair cells appear normal until P4   (MGI Ref ID J:77939)
      • on P4 the stereocilia are arranged in a U-shaped pattern rather than the normal W-shaped pattern   (MGI Ref ID J:77939)
      • in mutants on P15 and P35 stereocilia height within a rank of outer hair cells is irregular instead of uniform   (MGI Ref ID J:77939)
      • an increase in diameter and variable heights within bundles   (MGI Ref ID J:122600)
      • at P5 (but not at P3), the center of the developing W-shape of OHC stereocilia still contains excess microvilli which have not yet been absorbed, indicating delayed development of OHC stereociliary bundles   (MGI Ref ID J:48657)
      • at P10, the extra OHC microvilli in the center of the W-shape have not yet cleared totally in the apical turn but have disappeared in the basal turn, while kinocilia are still present but regress by P15   (MGI Ref ID J:48657)
      • outer hair bundles exhibit a linear rather than V-shaped configuration unlike in wild-type mice   (MGI Ref ID J:158897)
      • decreased outer hair cell stereocilia number
        • the number of outer hair cell stereocilia was sgnificantly reduced   (MGI Ref ID J:122600)
        • the center-to-center spacing between the stereocilia was greater   (MGI Ref ID J:122600)
      • short outer hair cell stereocilia   (MGI Ref ID J:158897)
    • cochlear outer hair cell degeneration
      • by P60 outer hair cells are showing signs of degeneration   (MGI Ref ID J:77939)
      • by P80 both outer hair cells and inner hair cells in the base of the cochlear duct are degenerating   (MGI Ref ID J:77939)
      • by P80 only outer hair cells are degenerating in the apex of the cochlear duct   (MGI Ref ID J:77939)
      • although apparently normal at P15, OHCs start showing signs of degeneration from P60 onwards   (MGI Ref ID J:48657)
  • cochlear hair cell degeneration
    • at P80, both IHCs and OHCs are degenerating   (MGI Ref ID J:48657)
    • cochlear inner hair cell degeneration
      • by P80 both outer hair cells and inner hair cells in the base of the cochlear duct are degenerating   (MGI Ref ID J:77939)
      • at P60, IHCs have still not degenerated or developed further; however, IHCs are degenerating at P80   (MGI Ref ID J:48657)
    • cochlear outer hair cell degeneration
      • by P60 outer hair cells are showing signs of degeneration   (MGI Ref ID J:77939)
      • by P80 both outer hair cells and inner hair cells in the base of the cochlear duct are degenerating   (MGI Ref ID J:77939)
      • by P80 only outer hair cells are degenerating in the apex of the cochlear duct   (MGI Ref ID J:77939)
      • although apparently normal at P15, OHCs start showing signs of degeneration from P60 onwards   (MGI Ref ID J:48657)
  • hematopoietic system phenotype
  • decreased leukocyte cell number
    • the white blood cell counts are significantly smaller at 15 weeks in male mutants   (MGI Ref ID J:5538)
  • decreased thymus weight
    • the thymus weight at 3.5 and 18 months in female mutants is significantly lower   (MGI Ref ID J:5037)

Whrnwi/Whrnwi

        involves: STOCK a Tyrp1b Myo5ad Oca2p Ednrbs
  • hearing/vestibular/ear phenotype
  • abnormal cochlear hair cell stereociliary bundle morphology
    • hair cell stereocilia are shorter than in wild-type mice   (MGI Ref ID J:132633)
  • nervous system phenotype
  • abnormal cochlear hair cell stereociliary bundle morphology
    • hair cell stereocilia are shorter than in wild-type mice   (MGI Ref ID J:132633)

Whrnwi/Whrnwi

        Background Not Specified
  • behavior/neurological phenotype
  • abnormal locomotor coordination   (MGI Ref ID J:175295)
  • abnormal posture   (MGI Ref ID J:175295)
  • absent pinna reflex   (MGI Ref ID J:175295)
  • tail dragging   (MGI Ref ID J:175295)
  • growth/size/body phenotype
  • decreased body weight   (MGI Ref ID J:175295)
  • homeostasis/metabolism phenotype
  • increased circulating alanine transaminase level   (MGI Ref ID J:175295)
  • increased circulating calcium level   (MGI Ref ID J:175295)
  • increased circulating cholesterol level   (MGI Ref ID J:175295)
    • increased circulating HDL cholesterol level   (MGI Ref ID J:175295)
  • increased circulating serum albumin level   (MGI Ref ID J:175295)
  • increased circulating total protein level   (MGI Ref ID J:175295)
  • increased lactate dehydrogenase level   (MGI Ref ID J:175295)
  • pigmentation phenotype
  • abnormal retinal pigmentation   (MGI Ref ID J:175295)
  • vision/eye phenotype
  • abnormal retina morphology   (MGI Ref ID J:175295)
    • abnormal retinal pigmentation   (MGI Ref ID J:175295)

Whrnwi/?

        Background Not Specified
  • hearing/vestibular/ear phenotype
  • abnormal auditory brainstem response   (MGI Ref ID J:175295)
  • reproductive system phenotype
  • abnormal fertility/fecundity   (MGI Ref ID J:175295)
View Research Applications

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

Tyrp1b related

Dermatology Research
Color and White Spotting Defects

Whrnwi related

Metabolism Research
Exertion Related

Neurobiology Research
Hearing Defects
Vestibular Defects

Sensorineural Research
Hearing Defects
Vestibular Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Tyrp1b
Allele Name brown
Allele Type Spontaneous
Common Name(s) b;
Strain of Originold mutant of the mouse fancy
Gene Symbol and Name Tyrp1, tyrosinase-related protein 1
Chromosome 4
Gene Common Name(s) B; CAS2; CATB; GP75; OCA3; TRP; TRP-1; TRP1; TYRP; Tyrp; b; b-PROTEIN; brown; iris stromal atrophy; isa; tyrosinase-related protein;
Molecular Note A G-to-A transition point mutation at position 329 was shown by revertant analysis to be responsible for the mutant phenotype seen in the brown mutant. This mutation is predicted to change a cysteine residue to a tyrosine in the encoded protein. Three other point mutations in the brown sequence were identified, but do not contribute to the mutant phenotype. [MGI Ref ID J:44435]
 
Allele Symbol Whrnwi
Allele Name whirler
Allele Type Spontaneous
Common Name(s) wi;
Strain of OriginSTOCK a Tyrp1 Myo5a Oca2

Ednrb

Gene Symbol and Name Whrn, whirlin
Chromosome 4
Gene Common Name(s) 1110035G07Rik; AW122018; AW742671; C430046P22Rik; CIP98; Dfnb31; PDZD7B; RIKEN cDNA 1110035G07 gene; RIKEN cDNA C430046P22 gene; USH2D; WI; expressed sequence AW122018; expressed sequence AW742671; mKIAA1526; whirler; wi;
General Note They have defects of the membranous labyrinth similar to those of Myo15 (M.S. Deol, personal communication).
Molecular Note The mutation was identified as a 526 bp deletion encompassing the first putative methionine of the short C-terminal isoform and part of the long isoform. This creates a frameshift resulting in premature termination of the long isoform before the third PDZ domain. [MGI Ref ID J:86904]

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References

References provided by MGI

Selected Reference(s)

Lane PW. 1963. Whirler mice, a recessive behavior mutation in linkage group VIII J Hered 54:263-6. [PubMed: 14098314]  [MGI Ref ID J:269]

Additional References

Fleming J; Rogers MJ; Brown SD; Steel KP. 1994. Linkage analysis of the whirler deafness gene on mouse chromosome 4. Genomics 21(1):42-8. [PubMed: 8088814]  [MGI Ref ID J:18269]

Mburu P; Mustapha M; Varela A; Weil D; El-Amraoui A; Holme RH; Rump A; Hardisty RE; Blanchard S; Coimbra RS; Perfettini I; Parkinson N; Mallon AM; Glenister P; Rogers MJ; Paige AJ; Moir L; Clay J; Rosenthal A; Liu XZ; Blanco G; Steel KP; Petit C; Brown SD. 2003. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet 34(4):421-8. [PubMed: 12833159]  [MGI Ref ID J:86904]

Sackler AM; Weltman AS. 1967. Metabolic and endocrine differences between the mutation whirler and normal female mice. J Exp Zool 164(2):133-40. [PubMed: 6034501]  [MGI Ref ID J:5037]

Tyrp1b related

Anderson MG; Libby RT; Mao M; Cosma IM; Wilson LA; Smith RS; John SW. 2006. Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma. BMC Biol 4:20. [PubMed: 16827931]  [MGI Ref ID J:128215]

Anderson MG; Nair KS; Amonoo LA; Mehalow A; Trantow CM; Masli S; John SW. 2008. GpnmbR150X allele must be present in bone marrow derived cells to mediate DBA/2J glaucoma. BMC Genet 9:30. [PubMed: 18402690]  [MGI Ref ID J:134670]

Barabas P; Huang W; Chen H; Koehler CL; Howell G; John SW; Tian N; Renteria RC; Krizaj D. 2011. Missing optomotor head-turning reflex in the DBA/2J mouse. Invest Ophthalmol Vis Sci 52(9):6766-73. [PubMed: 21757588]  [MGI Ref ID J:181395]

Brooks BP; Larson DM; Chan CC; Kjellstrom S; Smith RS; Crawford MA; Lamoreux L; Huizing M; Hess R; Jiao X; Hejtmancik JF; Maminishkis A; John SW; Bush R; Pavan WJ. 2007. Analysis of ocular hypopigmentation in Rab38cht/cht mice. Invest Ophthalmol Vis Sci 48(9):3905-13. [PubMed: 17724166]  [MGI Ref ID J:124886]

Cattanach BM. 1961. A chemically-induced variegated-type position effect in the mouse. Z Vererbungsl 92:165-82. [PubMed: 13877379]  [MGI Ref ID J:160128]

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]

Coleman DL. 1962. Effect of genic substitution on the incorporation of tyrosine into the melanin of mouse skin. Arch Biochem Biophys 96:562-8. [PubMed: 13880466]  [MGI Ref ID J:12173]

Gajewska M; Krysiak E; Wirth-Dziecialowska E. 2010. New coat color mutation mapped in distal part MMU10 MGI Direct Data Submission :.  [MGI Ref ID J:162146]

Gruneberg H. 1952. . In: The Genetics of the Mouse. Martinus Nijhoff, The Hague.  [MGI Ref ID J:30758]

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]

Howell GR; Libby RT; Jakobs TC; Smith RS; Phalan FC; Barter JW; Barbay JM; Marchant JK; Mahesh N; Porciatti V; Whitmore AV; Masland RH; John SW. 2007. Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucoma. J Cell Biol 179(7):1523-37. [PubMed: 18158332]  [MGI Ref ID J:131073]

Hunsicker PR. 1969. White-based brown, B<W> Mouse News Lett 40:41.  [MGI Ref ID J:13492]

Kelly EM. 1957. Beige, bg Mouse News Lett 16:36.  [MGI Ref ID J:29744]

Kobayashi T; Imokawa G; Bennett DC; Hearing VJ. 1998. Tyrosinase stabilization by Tyrp1 (the brown locus protein). J Biol Chem 273(48):31801-5. [PubMed: 9822646]  [MGI Ref ID J:51301]

Lamoreux ML; Wakamatsu K; Ito S. 2001. Interaction of major coat color gene functions in mice as studied by chemical analysis of eumelanin and pheomelanin. Pigment Cell Res 14(1):23-31. [PubMed: 11277491]  [MGI Ref ID J:103803]

Little CC. 1916. The occurrence of three recognized coat mutations in mice Am Naturalist 1:335-349.  [MGI Ref ID J:150254]

Manor U; Disanza A; Grati M; Andrade L; Lin H; Di Fiore PP; Scita G; Kachar B. 2011. Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8. Curr Biol 21(2):167-72. [PubMed: 21236676]  [MGI Ref ID J:171832]

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]

Matheu A; Pantoja C; Efeyan A; Criado LM; Martin-Caballero J; Flores JM; Klatt P; Serrano M. 2004. Increased gene dosage of Ink4a/Arf results in cancer resistance and normal aging. Genes Dev 18(22):2736-46. [PubMed: 15520276]  [MGI Ref ID J:93879]

Medical Research Council (MRC) Harwell. 2012. Direct Data Submission 2012/03/01 MGI Direct Data Submission :.  [MGI Ref ID J:180879]

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]

Murray WS. 1934. The breeding behavior of the dilute brown stock of mice (Little dba) Am J Cancer 20:573-593.  [MGI Ref ID J:2464]

Oak Ridge National Laboratory. 2005. Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN Unpublished :.  [MGI Ref ID J:100221]

RIKEN BioResource Center/RIKEN Genomic Sciences Center. 2008. A Large Scale Mutagenesis Program in RIKEN GSC PhenoSITE, World Wide Web (URL: http://www.brc.riken.jp/lab/gsc/mouse/) :.  [MGI Ref ID J:133634]

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

Raymond S; Jackson IJ. 1994. Molecular characterization of the mouse B<w> mutation causing premature melanocyte death - melanocytes and early development Genet Res 63(2):155 (Abstr).  [MGI Ref ID J:18590]

Rittenhouse E. 1968. Genetic effect on fine structure and development of pigment granules in mouse hair bulb melanocytes. I. The b and d loci. Dev Biol 17(4):351-65. [PubMed: 5650006]  [MGI Ref ID J:5068]

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

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

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]

Smyth IM; Wilming L; Lee AW; Taylor MS; Gautier P; Barlow K; Wallis J; Martin S; Glithero R; Phillimore B; Pelan S; Andrew R; Holt K; Taylor R; McLaren S; Burton J; Bailey J; Sims S; Squares J; Plumb B; Joy A; Gibson R; Gilbert J; Hart E; Laird G; Loveland J; Mudge J; Steward C; Swarbreck D; Harrow J; North P; Leaves N; Greystrong J; Coppola M; Manjunath S; Campbell M; Smith M; Strachan G; Tofts C; Boal E; Cobley V; Hunter G; Kimberley C; Thomas D; Cave-Berry L; Weston P; Botcherby MR; White S; Edgar R; C. 2006. Genomic anatomy of the Tyrp1 (brown) deletion complex. Proc Natl Acad Sci U S A 103(10):3704-9. [PubMed: 16505357]  [MGI Ref ID J:107243]

Sweet SE; Quevedo WC Jr. 1968. Role of melanocyte morphology in pigmentation of mouse hair. Anat Rec 162(2):243-54. [PubMed: 5726144]  [MGI Ref ID J:5095]

Trantow CM; Cuffy TL; Fingert JH; Kuehn MH; Anderson MG. 2011. Microarray analysis of iris gene expression in mice with mutations influencing pigmentation. Invest Ophthalmol Vis Sci 52(1):237-48. [PubMed: 20739468]  [MGI Ref ID J:171565]

Zdarsky E; Favor J; Jackson IJ. 1990. The molecular basis of brown, an old mouse mutation, and of an induced revertant to wild type. Genetics 126(2):443-9. [PubMed: 2245916]  [MGI Ref ID J:44435]

Whrnwi related

Belyantseva IA; Boger ET; Naz S; Frolenkov GI; Sellers JR; Ahmed ZM; Griffith AJ; Friedman TB. 2005. Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat Cell Biol 7(2):148-56. [PubMed: 15654330]  [MGI Ref ID J:102099]

British Society of Audiology short papers meeting on experimental studies of hearing and deafness. Cambridge, United Kingdom, 22-23 September 1996. (Kiernan BW; Fleming J; Rogers MJC; Self TJ; Varela A; Paige AJW; Brown SDM; Steel KP). 1997. Analysis of the deaf mouse mutant, whirler. Br J Audiol 31(2):73-132 (84-5 Abstr.). [PubMed: 9183385]  [MGI Ref ID J:39923]

Etournay R; Lepelletier L; Boutet de Monvel J; Michel V; Cayet N; Leibovici M; Weil D; Foucher I; Hardelin JP; Petit C. 2010. Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape. Development 137(8):1373-83. [PubMed: 20332152]  [MGI Ref ID J:158897]

Holme RH; Kiernan BW; Brown SD; Steel KP. 2002. Elongation of hair cell stereocilia is defective in the mouse mutant whirler. J Comp Neurol 450(1):94-102. [PubMed: 12124769]  [MGI Ref ID J:77939]

Kiernan BW; Mogensen MM; Self TJ; Brown SDM; Steel KP. 1998. Abnormalities of the inner ear in a deaf mouse mutant whirler (wi) Hered Deaf News 15:36-7.  [MGI Ref ID J:48657]

Kikkawa Y; Mburu P; Morse S; Kominami R; Townsend S; Brown SD. 2005. Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium. Hum Mol Genet 14(3):391-400. [PubMed: 15590699]  [MGI Ref ID J:95916]

Lewis MA; Quint E; Glazier AM; Fuchs H; De Angelis MH; Langford C; van Dongen S; Abreu-Goodger C; Piipari M; Redshaw N; Dalmay T; Moreno-Pelayo MA; Enright AJ; Steel KP. 2009. An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. Nat Genet 41(5):614-8. [PubMed: 19363478]  [MGI Ref ID J:151354]

Manor U; Disanza A; Grati M; Andrade L; Lin H; Di Fiore PP; Scita G; Kachar B. 2011. Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8. Curr Biol 21(2):167-72. [PubMed: 21236676]  [MGI Ref ID J:171832]

Mburu P; Kikkawa Y; Townsend S; Romero R; Yonekawa H; Brown SD. 2006. Whirlin complexes with p55 at the stereocilia tip during hair cell development. Proc Natl Acad Sci U S A 103(29):10973-8. [PubMed: 16829577]  [MGI Ref ID J:111803]

Mburu P; Mustapha M; Varela A; Weil D; El-Amraoui A; Holme RH; Rump A; Hardisty RE; Blanchard S; Coimbra RS; Perfettini I; Parkinson N; Mallon AM; Glenister P; Rogers MJ; Paige AJ; Moir L; Clay J; Rosenthal A; Liu XZ; Blanco G; Steel KP; Petit C; Brown SD. 2003. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet 34(4):421-8. [PubMed: 12833159]  [MGI Ref ID J:86904]

Mogensen MM; Rzadzinska A; Steel KP. 2007. The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development. Cell Motil Cytoskeleton 64(7):496-508. [PubMed: 17326148]  [MGI Ref ID J:122600]

Mouse Genome Informatics and the Wellcome Trust Sanger Institute Mouse Genetics Project (MGP). 2011. Obtaining and Loading Phenotype Annotations from the Wellcome Trust Sanger Institute (WTSI) Mouse Resources Portal Database Release :.  [MGI Ref ID J:175295]

Paige AJ; Kiernan BW; Varela A; Rogers MJ; Hughes D; Steel KP; Brown SD. 2000. A deletion on chromosome 4 cosegregates with the whirler deafness mutation: exclusion of Orm1 as a candidate. Mamm Genome 11(1):51-7. [PubMed: 10602993]  [MGI Ref ID J:59252]

Prosser HM; Rzadzinska AK; Steel KP; Bradley A. 2008. Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia. Mol Cell Biol 28(5):1702-12. [PubMed: 18160714]  [MGI Ref ID J:132633]

Sackler AM; Weltman AS. 1967. Metabolic and endocrine differences between the mutation whirler and normal female mice. J Exp Zool 164(2):133-40. [PubMed: 6034501]  [MGI Ref ID J:5037]

Wang L; Zou J; Shen Z; Song E; Yang J. 2012. Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II. Hum Mol Genet 21(3):692-710. [PubMed: 22048959]  [MGI Ref ID J:179695]

Weltman AS; Sackler AM; Lewis AS; Johnson L. 1970. Metabolism rate, biochemical and endocrine alterations in male whirler mice. Physiol Behav 5(1):17-22. [PubMed: 5538400]  [MGI Ref ID J:5538]

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    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* $4127.50
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

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

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