Strain Name: |
V/LeJ |
|---|---|
Stock Number: |
000275 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Genes & Alleles | Cdh23; Cdh23v; Ednrb; Ednrbs; Mlph; Mlphln; Sgk3; Sgk3fz; |
Product Information
Strain Details
Type Inbred Strain Additional information on Inbred Strains. Type JAX® GEMM® Strain - Spontaneous Mutation Additional information on JAX® GEMM® Strains. Species laboratory mouse Generation CPF42p Appearance
grey with white spots, thin wavy coat, circling
Related Genotype: a/a fz Mlphln/fz Mlphln Ednrbs/Ednrbs Cdh23v/Cdh23v
grey with white spots, thin wavy coat
Related Genotype: a/a fz Mlphln/fz Mlphln Ednrbs/Ednrbs Cdh23v/+Important Note
This strain is homozygous for fz, Mlphln, and Ednrbs, and is segregating for Cdh23v.Strain 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 (Mlphln), and piebald (Ednrbs) and is segregating for the neurological mutation, waltzer (Cdh23v). 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.
Mammalian Phenotype Terms assigned by genotype |
Gene & Allele Details
| Allele Symbol | Cdh23v | ||
|---|---|---|---|
| Allele Name | waltzer | ||
| Common Name(s) | v; | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | Cdh23, cadherin 23 (otocadherin) | ||
| Chromosome | 10 | ||
| Gene Common Name(s) | 4930542A03Rik; DFNB12; DKFZp434P2350; FLJ00233; FLJ36499; KIAA1774; KIAA1812; MGC102761; RIKEN cDNA 4930542A03 gene; USH1D; W; age related hearing loss 1; ahl; bob; bobby; bus; bustling; mdfw; modifier of deaf waddler; neuroscience mutagenesis facility, 112; neuroscience mutagenesis facility, 181; neuroscience mutagenesis facility, 252; nmf112; nmf181; nmf252; v; waltzer; | ||
| 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 (Cdh23v/+ Myo7ash1/+) 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 position 889 is predicted to cause a frameshift and premature termination of the encoded protein. [J:69985] [J:73941] | ||
| Allele Symbol | Ednrbs | ||
| Allele Name | piebald | ||
| Common Name(s) | s; | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | Ednrb, endothelin receptor type B | ||
| Chromosome | 14 | ||
| Gene Common Name(s) | ABCDS; AU022549; ETB; ETBR; ETRB; Ednra; HSCR; HSCR2; Sox10m1; expressed sequence AU022549; piebald; s; | ||
| 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. Homozygotes show irregular white spotting, the amount of which is greatly influenced by minor modifying genes (J:12952). Homozygotes 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 (J:15014, J:12970). There may also be defects in the structure of the iris, suggesting that pigment cells make some structural or inductive contribution to normal development (J:13123).Homozygotes may develop megacolon which is always associatedwith lack of ganglion cells in the distal portion of the colon. The incidence of megacolon is also affected by minor modifying genes (J:15014). Pigment cells and enteric ganglion cells of the colon are both derived from the neural crest, and Mayer (J:12725) has shown by explantation of embryonic tissues that the defect leading to white spotting is in the neural crest rather than in the skin. The defect probably consists of failure of pigment cells to differentiate in certain tissue environments rather than in failure to migrate (J:5036). The distribution of white areas in the skin and other organs is probably due to normal regional differences in these tissues in capacity to support pigmentation and not to regional heterogeneity among the pigment cells themselves (J:5220, J:5036, J:5060, J:5782).The piebald mutation was shown to be linked closely with Hr (J:299), later mapped to Chr 14 (J:52911). The localization has been refined in studies of induced mutations, using an intersubspecific backcross (J:16291). | ||
| 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. [J:110573] [J:22206] [J:56133] | ||
| Allele Symbol | Mlphln | ||
| Allele Name | leaden | ||
| Common Name(s) | leaden; ln; | ||
| Strain of Origin | C57BR | ||
| Gene Symbol and Name | Mlph, melanophilin | ||
| Chromosome | 1 | ||
| Gene Common Name(s) | 2210418F23Rik; 5031433I09Rik; AW228792; D1Wsu84e; DNA segment, Chr 1, Wayne State University 84, expressed; MGC2771; MGC59733; SLAC2-A; Slac-2a; expressed sequence AW228792; l(1)-3Rk; l1Rk3; leaden; lethal, Chr 1, Roderick 3; ln; | ||
| General Note | In its effect on coat color the leaden mouse is indistinguishable from the dilute mouse. Like dilute, this allele causes clumping of melanin granules into larger masses, but no change in color of the pigment. The clumping is due to the shape of the melanocytes, which have fewer and thinner dendritic processes than wild-type melanocytes (J:12970). These melanocytes are more easily dislodged from fixed sites in the hair bulb and incorporated into the developing hair, resulting in large clumps of pigmentin the hair shaft (J:5095). By use of chimeras and dermal-epidermal recombination grafts, the site of action was shown to be in the melanocytes (J:8167). | ||
| Molecular Note | This allele has a C to T transition at mRNA nucleotide position 266. This introduces a stop codon in the sequence of the normally spliced transcript and it also creates a new 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. [J:71302] | ||
| Allele Symbol | Sgk3fz | ||
| Allele Name | fuzzy | ||
| Strain of Origin | CFW stock | ||
| Gene Symbol and Name | Sgk3, serum/glucocorticoid regulated kinase 3 | ||
| Chromosome | 1 | ||
| Gene Common Name(s) | 2510015P22Rik; A330005P07Rik; CISK; DKFZp781N0293; RIKEN cDNA 2510015P22 gene; RIKEN cDNA A330005P07 gene; SGK2; SGKL; cytokine-independent survival kinase; frowzy; fuzzy; fy; fz; | ||
| 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. [J:125551] | ||
Control Information
| Control | ||
|---|---|---|
| None Available | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Ednrbs allele
000577 B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J 000676 LP/J 000308 SSL/LeJ View Strains carrying Ednrbs (3 strains)
000112 B6.Cg-Sgk3fz H54 Mlphln/+ H54 +/J 000668 C57L/J 000643 DW/J Mlphln Pou1f1dw/J 002902 STOCK Pax3Sp Mlphln/J
000112 B6.Cg-Sgk3fz H54 Mlphln/+ H54 +/J
001137 129P1/ReJ 000690 129P3/J 002065 129T2/SvEmsJ 000691 129X1/SvJ 000646 A/J 000647 A/WySnJ 003070 ALR/LtJ 003072 ALS/LtJ 002756 B6.CAST-Cdh23Ahl+/Kjn 004502 B6;AKR-Lxl2/J 002432 B6J x B6.C-H2bm1/ByJ-Cdh23v-J/J 001026 BALB/cByJ 000653 BUB/BnJ 005494 C3.129S1(B6)-Grm1rcw/J 000664 C57BL/6J 002552 C57BL/6J-Cdh23v-2J/J 004764 C57BL/6J-Cdh23v-8J/J 004819 C57BL/6J-Cdh23v-9J/J 003129 C57BL/6J-Epha4rb-2J/J 004820 C57BL/6J-Kcne12J/J 004703 C57BL/6J-Nmf134/J 004811 C57BL/6J-nmf110/J 004812 C57BL/6J-nmf111/J 004747 C57BL/6J-nmf118/J 004656 C57BL/6J-nmf88/J 004391 C57BL/6J-Chr 13A/J/NaJ 004385 C57BL/6J-Chr 7A/J/NaJ 000662 C57BLKS/J 000667 C57BR/cdJ 000668 C57L/J 000669 C58/J 005016 CByJ;B6-Cdh23v-10J/J 000657 CE/J 000670 DBA/1J 001140 DBA/1LacJ 000671 DBA/2J 007048 DBA/2J-Gpnmb+/SjJ 002106 KK/HlJ 000675 LG/J 000676 LP/J 000677 MA/MyJ 001976 NOD/ShiLtJ 002050 NOR/LtJ 000679 P/J 002747 SENCARB/PtJ 002335 SKH2/J 003392 STOCK Crb1rd8/J
003295 B6;129-Ednrbtm1Ywa/J 000308 SSL/LeJ 004711 STOCK Ednrbs-52Pub
000681 DW.C3-Mlph+ Pou1f1+/J 001640 STOCK Mlphln-l1Rk3/J
006135 STOCK Sgk3fz-ica/McirJ
Research Applications
This mouse can be used to support research in many areas including:Cdh23v related
Ednrbs relatedDevelopmental Biology Research
Defects in Cell Adhesion Molecules
Mouse/Human Gene Homologs
Usher syndrome, type ID (USH1D)
deafness, autosomal recessive 12 (DFNB12)
Neurobiology Research
Vestibular and Hearing Defects (deafness, nonsyndromic autosomal recessive 12 (DFNB12))
Sensorineural Research
Vestibular and Hearing Defects (deafness, nonsyndromic autosomal recessive 12 (DFNB12))
Mlphln relatedDermatology Research
Color and White Spotting Defects
Developmental Biology Research
Neural Crest Defects
Neurodevelopmental Defects
Mouse/Human Gene Homologs
Hirschsprung disease
Neurobiology Research
Neurodevelopmental Defects
Receptor Defects
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
Sgk3fz relatedDermatology Research
Color and White Spotting Defects
Skin and Hair Texture Defects
References
Additional ReferencesPrice and Supply Information
| Strain Name: | V/LeJ |
| Stock Number: | 000275 |
Price Details
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to the 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. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. |
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