Overview

This inbred mutant strain carries the nonagouti (a), fuzzy (fz), leaden (Mlph^ln), and piebald (Ednrb^s) mutations, and is segregating for the waltzer (Cdh23^v) neurological mutation.

Genetic overview

Genetic Background	Generation

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Research Applications

Developmental Biology Research
Mouse/Human Gene Homologs
Neurobiology Research
Sensorineural Research
Dermatology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Important Note

This strain is homozygous for fz, Mlph^ln, and Ednrb^s, and is segregating for Cdh23^v.

Detailed Description

This strain was originally used as a linkage stock for gene mapping. It is homozygous for several visible recessive mutations all located on different chromosomes including nonagouti (a), fuzzy (fz), leaden (Mlph^ln), and piebald (Ednrb^s) and is segregating for the neurological mutation, waltzer (Cdh23^v). Homozygous waltzer mice show the circling, head-tossing, deafness, and hyperactivity typical of the circling mutants. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Homozygous piebald mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. Homozygous piebald mice have dark eyes. The white areas of the coat are completely lacking in melanocytes and there is a reduction in the number of melanocytes in the choroid layer of the eye.

Development

The waltzing mutation came from the Japanese mouse fanciers and was received by George Snell at The Jackson Laboratory from Ludwin in 1947 when the stock was homozygous for nonagouti, leaden, waved 1, and piebald. This stock was crossed once to C57BL/10 and non-sibling mated for approximately 22 generations after which it was crossed to a C57BL/10 stock bearing fuzzy and jittery. The fuzzy and waved 1 mutations were selectively bred out of the stock. Sibling inbreeding of this stock began in approximately 1960. In 1983 this stock was at generation F47 and waltzer heterozygous females were bred with homozygous males to generate embryos for cryopreservation.

Control Suggestions

None Available

Additional Information

Considerations for Choosing Controls

Genetics

Sgk3^fz

Allele Symbol: Sgk3^fz

Allele Name	fuzzy
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	Sgk3, serum/glucocorticoid regulated kinase 3
Gene Synonym(s)
Strain of Origin	CFW stock
Chromosome	1
Molecular Note	This mutation comprises insertion of a single adenine following nucleotide 579 of the cDNA sequence, in a region encoded by exon 10 of the gene, that causes a shift in the amino acid reading frame and premature termination of protein translation following leucine 192 (Leu192Ter), which resides in the serine/threonine kinase domain.

Ednrb^s

Allele Symbol: Ednrb^s

Allele Name	piebald
Allele Type	Spontaneous
Allele Synonym(s)	pied spotting; s
Gene Symbol and Name	Ednrb, endothelin receptor type B
Gene Synonym(s)
Strain of Origin	old mutant of the mouse fancy
Chromosome	14
General Note	Also called piebald spotting. This is a very old mutation of the mouse fancy, and was described in the scientific literature as early as 1920 (J23183). Some piebalds in existing stocks may be of independent origin.
Molecular Note	This mutation is allelic to a targeted mutation for this gene. Homozygous mice produce approximately 25% of the normal levels of transcript from this allele. RT-PCR analysis demonstrated that no alterations in the coding sequence would result in any alteration of the amino acid sequence. A 5.5 kb retrotransposon-like element is found in intron 1. About 75% of the mRNA produced is an aberrant 6.5 kb form lacking exons 2-6 but containing exon 1. The remaining 25% of the mRNA formed is of normal, 4.4 kb, size.

Cdh23^v

Allele Symbol: Cdh23^v

Allele Name	waltzer
Allele Type	Spontaneous
Allele Synonym(s)	v
Gene Symbol and Name	Cdh23, cadherin 23 (otocadherin)
Gene Synonym(s)
Strain of Origin	old mutant of the mouse fancy
Chromosome	10
General Note	Viability and breeding ability are somewhat less than normal. Homozygotes show the typical circling, head-tossing, deafness, and hyperactivity of the circling mutants. Most of them are deaf from the beginning. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Double heterozygotes with shaker-1 (Cdh23^v/+ Myo7^ash1/+) are deaf beginning at 3 to 6 months. They have changes similar to those of the homozygotes in the organ of Corti, stria vascularis, and spiral ganglion, but less severe and with much later onset (J:13130)(J:15164).
Molecular Note	A single G nucleotide insertion at coding nucleotide 834 causes a frameshift and premature termination of the encoded protein.

Mlph^ln

Allele Symbol: Mlph^ln

Allele Name	leaden
Allele Type	Spontaneous
Allele Synonym(s)	ln
Gene Symbol and Name	Mlph, melanophilin
Gene Synonym(s)
Strain of Origin	C57BR
Chromosome	1
Molecular Note	This allele has a C-to-T transition at mRNA nucleotide position 266. This introduces a stop codon at arginine codon 31 (p.R31*) in the sequence of the normally spliced transcript and it also creates a new G-GT splice donor site in exon 2. Use of this alternative splice site yields a transcript with an in-frame 21 base pair deletion that deletes 7 amino acids from the translated protein. Northern blots failed to detect this size difference and did not find any change from normal in transcript expression level. Sequence analysis failed to detect any wild-type transcripts.

Disease/Phenotype

Disease Terms

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).

Usher syndrome type 1D

Research Areas By Phenotype

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

Genotype: Cdh23^v related

Developmental Biology Research
- Defects in Cell Adhesion Molecules
Mouse/Human Gene Homologs
- deafness, autosomal recessive 12 (DFNB12)
- Usher syndrome, type ID
  - USH1D
Neurobiology Research
- Hearing Defects
  - deafness, nonsyndromic autosomal recessive 12 (DFNB12)
- Vestibular Defects
Sensorineural Research
- Hearing Defects
  - deafness, nonsyndromic autosomal recessive 12 (DFNB12)
- Vestibular Defects

Genotype: Ednrb^s related

Neurobiology Research
- Hearing Defects
- Neurodevelopmental Defects
- Receptor Defects
Sensorineural Research
- Hearing Defects
Mouse/Human Gene Homologs
- Hirschsprung disease
Dermatology Research
- Color and White Spotting Defects
Developmental Biology Research
- Neural Crest Defects
- Neurodevelopmental Defects

Genotype: Mlph^ln related

Dermatology Research
- Color and White Spotting Defects

Genotype: Sgk3^fz related

Dermatology Research
- Skin and Hair Texture Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: Cdh23^v/Cdh23⁺
mixed

behavior/neurological phenotype

absent pinna reflex
- percentage of animal showing no Preyer reflex in response to the sound stimulus increase from 0% at 1 to 3 months to approximately 35% at 7 to 9 month

hearing/vestibular/ear phenotype

increased susceptibility to age-related hearing loss
- percentage of animal showing no Preyer reflex in response to the sound stimulus increase from 0% at 1 to 3 months to approximately 35% at 7 to 9 month

Genotype: Cdh23^v/Cdh23^v
involves: fancier's stocks

digestive/alimentary phenotype

abnormal defecation
- reduced frequency

hearing/vestibular/ear phenotype

deafness

behavior/neurological phenotype

abnormal stationary movement
- decrease in the frequency of single forepaw lifts in males

abnormal locomotor behavior
- no wire mesh climbing is seen in males

abnormal response to novelty
- increase in the frequency of sniffing at the peat dust in males
- no food carrying is seen in males
- decrease in the frequency of digging, wall gnawing, forepaw vibrations, wall leans, hair fluffing, and sniffing at wire mesh in males

abnormal gait
- waddling gait

circling

decreased grooming behavior
- reduced frequency of grooming in males

decreased vertical activity
- no rearing behavior is seen in males

tremors

head shaking

Genotype: Cdh23^v/Cdh23^v
involves: CBA/Ca

hearing/vestibular/ear phenotype

abnormal inner hair cell stereociliary bundle morphology
- disorganized in all homozygotes at all stages analyzed (E18.5, P4, and P20)

abnormal outer hair cell stereociliary bundle morphology
- homozygotes projected fewer recognizable stereocilia at E18.5
- arranged in irregular clumps rather than in normal "V"-shape at P4
- stereocilia remain disorganized at P20

vision/eye phenotype

abnormal eye electrophysiology
- at 100-130 days of age, electroretinography analysis showed that a-waves have reduced amplitudes and faster implicit times; the b-wave is attenuated, but the implicit time is not significantly faster

mammalian phenotype

vision/eye phenotype
- no histological abnormalities are seen and no evidence of photoreceptor cell loss is detected

nervous system phenotype

abnormal outer hair cell stereociliary bundle morphology
- stereocilia remain disorganized at P20
- homozygotes projected fewer recognizable stereocilia at E18.5
- arranged in irregular clumps rather than in normal "V"-shape at P4

abnormal inner hair cell stereociliary bundle morphology
- disorganized in all homozygotes at all stages analyzed (E18.5, P4, and P20)

Genotype: Cdh23^v/Cdh23^v
mixed

behavior/neurological phenotype

impaired swimming
- adults are unable to swim

hearing/vestibular/ear phenotype

cochlear hair cell degeneration
- at 2 weeks of age

vestibular saccular macula degeneration
- at 13 days

nervous system phenotype

cochlear hair cell degeneration
- at 2 weeks of age

cochlear ganglion degeneration
- at 4 weeks

The following phenotype relates to a compound genotype created using this strain

Genotype: Cdh23^v/Cdh23^v
V/LeJ

mammalian phenotype

homeostasis/metabolism phenotype
- Normal - no aberrant bleeding time after tail vein nick

References

Additional References

Baynash AG; Hosoda K; Giaid A; Richardson JA; Emoto N; Hammer RE; Yanagisawa M. 1994. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79(7):1277-85PubMed: 8001160 MGI: J:22207
Bolz H; von Brederlow B; Ramirez A; Bryda EC; Kutsche K; Nothwang HG; Seeliger M; Cabrera Md; Vila MC; Molina OP; Kubisch C; Gal A. 2001. Mutation of CDH23, encoding a new member of the cadherin gene family, causes usher syndrome type 1D Nat Genet 27(1):108-12PubMed: 11138009 MGI: J:66740
Hosoda K; Hammer RE; Richardson JA; Baynash AG; Cheung JC; Giaid A; Yanagisawa M. 1994. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79(7):1267-76PubMed: 8001159 MGI: J:22206

Additional - Cdh23^v related

Additional - Ednrb^s related

Additional - Mlph^ln related

Additional - Sgk3^fz related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- grey with white spots, thin wavy coat, circling
  Related Genotype: a/a fz Mlph^ln/fz Mlph^ln Ednrb^s/Ednrb^s Cdh23^v/Cdh23^v
  
  grey with white spots, thin wavy coat
  Related Genotype: a/a fz Mlph^ln/fz Mlph^ln Ednrb^s/Ednrb^s Cdh23^v/+
Citation
When using the V/LeJ mouse strain in a publication, please include JAX stock #000275 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Homozygous for a, Homozygous for fz Mlph<ln>, Homozygous for Ednrb<s>,Heterozygous or Homozygous for Cdh23<v>

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

Sgk3fz

Allele Symbol: Sgk3fz

Ednrbs

Allele Symbol: Ednrbs

Cdh23v

Allele Symbol: Cdh23v

Mlphln

Allele Symbol: Mlphln

Disease Terms

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).

Research Areas By Phenotype

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

Genotype: Cdh23v related

Genotype: Ednrbs related

Genotype: Mlphln related

Genotype: Sgk3fz related

Mammalian Phenotype Terms by Genotype

Genotype: Cdh23v/Cdh23+mixed

behavior/neurological phenotype

hearing/vestibular/ear phenotype

Genotype: Cdh23v/Cdh23vinvolves: fancier's stocks

digestive/alimentary phenotype

hearing/vestibular/ear phenotype

behavior/neurological phenotype

Genotype: Cdh23v/Cdh23vinvolves: CBA/Ca

hearing/vestibular/ear phenotype

vision/eye phenotype

mammalian phenotype

nervous system phenotype

Genotype: Cdh23v/Cdh23vmixed

behavior/neurological phenotype

hearing/vestibular/ear phenotype

nervous system phenotype

Genotype: Cdh23v/Cdh23vV/LeJ

mammalian phenotype

References

Additional References

Additional - Cdh23v related

Additional - Ednrbs related

Additional - Mlphln related

Additional - Sgk3fz related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Sgk3^fz

Allele Symbol: Sgk3^fz

Ednrb^s

Allele Symbol: Ednrb^s

Cdh23^v

Allele Symbol: Cdh23^v

Mlph^ln

Allele Symbol: Mlph^ln

Genotype: Cdh23^v related

Genotype: Ednrb^s related

Genotype: Mlph^ln related

Genotype: Sgk3^fz related

Genotype: Cdh23^v/Cdh23⁺
mixed

Genotype: Cdh23^v/Cdh23^v
involves: fancier's stocks

Genotype: Cdh23^v/Cdh23^v
involves: CBA/Ca

Genotype: Cdh23^v/Cdh23^v
mixed

Genotype: Cdh23^v/Cdh23^v
V/LeJ

Additional - Cdh23^v related

Additional - Ednrb^s related

Additional - Mlph^ln related

Additional - Sgk3^fz related