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Strain Name:

B6.Cg-Whrnwi Tyrp1b/+ +/J

Stock Number:

000571

Availability:

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General Terms and Conditions

Former Name      B6.Cg-wi Tyrp1b/+ +/J    (Changed: 15-DEC-04 )
Genes & Alleles   Tyrp1;   Tyrp1b;   Whrn;   Whrnwi;

Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Mutant Strain
Specieslaboratory mouse
Background Strain C57BL/6J
Donor Strain Whrnwi , Holman's recessive stock; Tyrp1b , Holman's recessive stock
GenerationN16p

Strain 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.)

Strain 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 Disease (OMIM) Terms

Deafness, Autosomal Recessive 31; DFNB31
Mammalian Phenotype Terms assigned by genotype

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

Whrnwi/Whrn+

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

Whrnwi/Whrnwi

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

Gene & Allele Details

Allele Symbol Tyrp1b
Allele Name brown
Strain of OriginC57BL
Gene Symbol and Name Tyrp1, tyrosinase-related protein 1
Chromosome 4
Gene Common Name(s) B; CAS2; CATB; GP75; TRP; TRP-1; TRP1; TYRP; Tyrp; b; b-PROTEIN; brown; iris stromal atrophy; isa; tyrosinase-related protein;
General Note Tyrp1b, brown, recessive. This type mutant of the brown locus is an old mutation of the mouse fancy. The eumelanin of the hair and eyes is brown rather than black. The pigment granules also appear brown rather than black and are spheroid rather than ovoid in shape (J:12970). The fine structure of the developing pigment granules is fibrillar, like that of wild type mice, but the appearance of the mature granule may be more coarsely granular (J:5346, J:5001, J:5068). The granules incorporate twice as much 14C-tyrosine as normal (J:12173).
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
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; DKFZp434N014; KIAA1526; RIKEN cDNA 1110035G07 gene; RIKEN cDNA C430046P22 gene; RP11-9M16.1; USH2D; WI; expressed sequence AW122018; expressed sequence AW742671; mKIAA1526; whirler; wi;
General Note Viability of homozygotes may be slightly reduced. Both sexes are fertile, but females do not always make good mothers (J:269). 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]

Related Strains

Strains carrying   Tyrp1b allele
000004   ABP/LeJ
000027   B6.D-Tyrp1b m/J
000670   DBA/1J
000265   MY/HuLeJ
001045   SI/Col Tyrp1b Dnahc11iv/J
000064   STOCK a Tyrp1b Sisi/J
002238   STOCK a Tyrp1b shmy/J
001432   STOCK a/a Tyrp1b sks/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
000274   TSJ/LeJ
View Strains carrying   Tyrp1b     (11 strains)

Strains carrying other alleles of Tyrp1
000068   C57BL/6J-Tyrp1b-J/J
000093   C57BL/6J-Tyrp1b-cJ/J
000671   DBA/2J
003588   LT/SvEi
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     (7 strains)

Additional Web Information

Congenic Nomenclature

Research Applications

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

Tyrp1b related

Dermatology Research
Color and White Spotting Defects

Mouse/Human Gene Homologs
oculocutaneous albinism type III

Whrnwi related

Metabolism Research
Exertion Related

Neurobiology Research
Vestibular and Hearing Defects

Sensorineural Research
Vestibular and Hearing Defects

References

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

Price and Supply Information

Strain Name: B6.Cg-Whrnwi Tyrp1b/+ +/J
Stock Number: 000571

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
Genomic DNA is available for this strain from the Mouse DNA Resource.

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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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