Mice heterozygous for the varitint-waddler spontaneous mutation (Mcoln3Va) are deaf and show circling behavior, head-tossing, and hyperactivity. Heterozygotes circle somewhat less than some of the other circling mutants. Their coats are variegated with patches of normal-colored, diluted, and white fur. Homozygotes show more intense behavioral abnormalities than heterozygotes, and their coats are white, except for small patches of unaltered color near the ears and base of the tail. The pathological changes in heterozygotes include degeneration of the organ of Corti, stria vascularis, spiral ganglion, saccular macula, cristae ampullares, and vestibular ganglion. In homozygotes the degenerative changes are more severe and also include the utricular macula. Viability of heterozygotes is nearly normal, but fertility is reduced. Mortality is very high in homozygotes, and very few of the survivors are fertile. Compound heterozygotes for 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 homozygous for the rex spontaneous mutation (Re) and segregating for Danforth's short tail (Sd).
Varitint waddler (Mcoln3Va) arose spontaneously at The Jackson Laboratory in 1942 in a cross between C57BL (black) and C57BR (brown) strains which had been separated by over 100 generations of inbreeding. Some of the F1 females of this cross were backcrossed to the C57BL parent male and one such mating produced the first varitint waddler male. Following the Bar Harbor fire of 1947 the Mcoln3Va mutation was returned to The Jackson Laboratory in 1950 from T. C. Carter at Edinburgh in a linkage testing stock called E1 and containing rex (Re), Danforth's short tail (Sd), and varitint waddler. This E1 stock was then outcrossed to C57BL/6J 3 times before 2 non-sibling matings were done then followed by 2 outcrosses to C3H/He then one outcross to CBA. The stock was then closed colony sibling and non-sibling mated until 1970. It was then named RSV/Le and sibling mated, reaching F55 in 1989. This strain was cryopreserved in 1989 using embryos generated by mating mice homozygous for rex and segregating for varitint waddler and Danforth's short tail. In 2005 this strain reached F127.
|Gene Symbol and Name||Krt25, keratin 25|
|Strain of Origin||Outbred|
|Molecular Note||This allele contains a nucleotide substitution that results in an amino acid substitution of proline for leucine at position 381 (L381P).|
|Allele Name||varitint waddler|
|Allele Synonym(s)||TRPML3Va; Va|
|Gene Symbol and Name||Mcoln3, mucolipin 3|
|Strain of Origin||(C57BL x C57BR)F1|
|Molecular Note||The mutation in the Va mouse is a G-to-C transversion at coding nucleotide 1255 within exon 10. This results in a change from alanine to proline at amino acid 419 (p.A419P> which is in the fifth transmembrane domain.|
|Allele Name||retinal degeneration 1|
|Allele Synonym(s)||Pdebrd1; rd; rd1; rd-1; rodless retina|
|Gene Symbol and Name||Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide|
|Strain of Origin||various|
|General Note||The following inbred strains are known to be homozygous for Pde6b |
|Molecular Note||Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C-to-A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain, has been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested.|
|Allele Name||short Danforth|
|Gene Symbol and Name||Etn2, early transposon element insertion site 2|
|Strain of Origin||Danforth's posterior duplication stock|
|General Note||Phenotypic Similarity to Human Syndrome: Caudal regression syndrome (J:195133)|
|Molecular Note||A retrotransposon highly homologous to murine early transposon (ETn) endogenous retrovirus (ERV) 3 (ETnERV3) inserted 12 kb upstream of Ptf1a resulting in over-expression. The transposon insertion also results in the over-expression of Gm13344 and Gm13336.|
For customers interested in only Sd or only Mcoln3Va, we can also offer the following breeder pairs: Re Sd +/Re + + x Re + + /Re + + or vice versa; Re + Mcoln3Va/Re + + x Re + + /Re + + or vice versa. Homozygous Sd/Sd die shortly after birth, homozygous Va/Va have reduced viability and fertility. This strain does not breed well.
When using the RSV/LeJ mouse strain in a publication, please include JAX stock #000268 in your Materials and Methods section.
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