Strain Name: |
B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J |
|---|---|
Stock Number: |
000296 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Former Name |
B6C3Fe-a/a Hoxa13Hd McolnVa-J (Changed: 15-DEC-04
) |
|
B6C3Fe-a/a-Hoxa13Hd McolnVa-J (Changed: 15-DEC-04
) | |
|
B6C3Fe-a/a-Hoxa13Hd VaJ (Changed: 15-DEC-04
) | |
| Genes & Alleles | Hoxa13; Hoxa13Hd; Mcoln3; Mcoln3Va-J; a; |
Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Spontaneous Mutation Species laboratory mouse Generation N53p Appearance
Hoxa13Hd: black, toe defects to hindfeet
Related Genotype: a/a Hoxa13Hd/+ +/+
Mcoln3Va-J: slightly diluted black with spotting on belly or head, ataxic
Related Genotype: Mcoln3Va-J/+ +/+
Mcoln3Va-J: agouti, unaffected
Related Genotype: A/A +/+ +/+
Hoxa13Hd: black unaffected
Related Genotype: a/a +/+ +/+Strain Description
Mice heterozygous for the varitint-waddler Jackson spontaneous mutation (Mcoln3Va-J) are more pigmented than the original varitint waddler mice (Mcoln3Va) and behave normally although they are deaf. They have slightly diluted coat color, a large irregular belly spot, and white feet and tail tip. Homozygous mutant mice have extensive white spotting interspersed with patches of diluted color. They are deaf but behave normally and are fertile. Compound heterozygotes of the two alleles (Mcoln3Va-J/Mcoln3Va) are similar to Mcoln3Va-J/Mcoln3Va-J mice but are smaller with more white spotting and abnormal behavior. They are deaf and circle vigorously. Viability and fertility of Mcoln3Va-J/Mcoln3Va mice are considerably reduced. This strain is also carrying the semidominant hypodactyly spontaneous mutation (Hoxa13Hd). Heterozygous hypodactyly mutant mice are viable and fertile. Heterozygotes are missing the terminal phalanx of the first digit of the hindfoot and show variable penetrance for shortening or missing first phalanx. The forefeet are normal. Homozygous mutant mice have a single digit on each foot and greatly reduced carpals, metacarpals, tarsals, and metatarsals. The surviving digit is probably the fifth. Most homozygotes die before birth, but a few have survived to maturity but are sterile.Strain Development
The mutation hypodactyly (Hoxa13Hd) arose spontaneously in strain MYA/Hu of Dr. K. P. Hummel at The Jackson Laboratory in approximately 1965. It was backcrossed onto a hybrid of C3HeB/Hu x DBAfB/Hu for 5 generations before being backcrossed onto C57BL/6J for 7 generations. The mutation Mcoln3Va-J arose spontaneously in a chromosome 3 linkage testing stock and was backcrossed onto C57BL/6J for 10 generations before crossing to C57BL/6J-Hoxa13Hd/+ at N7. This Hoxa13Hd Mcoln3Va-J stock was sibling bred for 2 generations and backcrossed once to C57BL/6J and then crossed to the B6C3Fe-a/a F1 hybrid and maintained by continued crosses to this hybrid. In 1987 B6C3F1-a/a F1 females were bred with Hoxa13Hd Mcoln3Va-J/+ + males at N5F2 to generate embryos for cryopreservation.
Related Disease (OMIM) Terms |
Mammalian Phenotype Terms assigned by genotype |
| Allele Symbol | Hoxa13Hd | ||
|---|---|---|---|
| Allele Name | hypodactyly | ||
| Common Name(s) | Hd; | ||
| Strain of Origin | MYA/Hu | ||
| Gene Symbol and Name | Hoxa13, homeo box A13 | ||
| Chromosome | 6 | ||
| Gene Common Name(s) | HOX1; HOX1J; Hd; Hox-1.10; RGD1562483; homeo box-1 cluster, gene 10; hypodactyly; | ||
| General Note |
A double mutant of the hydrocephalic-polydactyly mutation, hophpy, and the hypodactyly mutation, Hoxa13Hd, produced offspring of normal hallux phenotype. The first mutant tends to multiply, the second to eliminate halluces, and the two cancel each other (J:23839). | ||
| Molecular Note | A 50-base pair deletion in the first exon of the Hd allele that probably arose from unequal recombination or misalignment between triplet repeats. [MGI Ref ID J:33715] | ||
| Allele Symbol | Mcoln3Va-J | ||
| Allele Name | varitint waddler Jackson | ||
| Common Name(s) | VaJ; | ||
| Strain of Origin | STOCK Mcoln3 | ||
| Gene Symbol and Name | Mcoln3, mucolipin 3 | ||
| Chromosome | 3 | ||
| Gene Common Name(s) | 6720490O21Rik; FLJ11006; FLJ36629; MGC71509; RIKEN cDNA 6720490O21 gene; TRP-ML3; TRPML3; Va; varitint-waddler; | ||
| General Note | This mutation was found in a linkage cross involving Mcoln3Va, and probably arose by mutation from Mcoln3Va. (J:5286) | ||
| Molecular Note | This allele has a T-to-C transition at nucleotide 1085 within exon 8. This results in a change from isoleucine to threonine at amino acid 362 in the second extracellular loop. The Mcoln3Va-J allele, which arose on a strain segregating for the more severe Mcoln3Va allele, also has the G-to-C transversion at nucleotide 1255 specific to the Mcoln3Va allele indicating that the Mcoln3Va-J allele contains an additional point mutation to the Mcoln3Va allele. The less severe phenotype of the Mcoln3Va-J allele suggests that the T-to-C transition at nucleotide 1085 might mitigate the effects of the G-to-C mutation at nucleotide 1255 although the impact of genetic background must be considered. The encoded protein can be detected in the hair cells of heterozygous and homozygous mice. [MGI Ref ID J:80336] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
| Breeding & Husbandry | McolnVa-J and Hoxa13Hd are on separate chromosomes and assort independently. The mice distributed are heterozygous carriers for either one or the other mutation, but not both. |
|---|
Strains carrying Mcoln3Va-J allele
000126 B6By.Cg-Sd Mcoln3Va-J Krt25Re/J View Strains carrying Mcoln3Va-J (1 strain)
Strains carrying a allele
View Strains carrying a (102 strains)
Strains carrying other alleles of Mcoln3
000071 C57BL/6J-Mcoln3Va/J 000268 RSV/LeJ View Strains carrying other alleles of Mcoln3 (2 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (67 strains)
Hoxa13Hd related
Mcoln3Va-J relatedDevelopmental Biology Research
Skeletal Defects
Dermatology Research
Color and White Spotting Defects
Neurobiology Research
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
| Strain Name: | B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J |
| Stock Number: | 000296 |
IMPORTANT NOTE: Prices are based on shipping destination. To view prices, select your shipping destination.
| Standard Supply | Repository-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. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. |
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