RSV/LeJ

Stock number: 000268
Research areas: Dermatology Research, Developmental Biology Research, Internal/Organ Research, Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

This inbred mutant strain is homozygous for rex (Re) and segregating for Danforth's short tail (Etn2, formerly Sd), and Varitint waddler (Mcoln3^Va).

Detailed description

Mice heterozygous for the varitint-waddler spontaneous mutation (Mcoln3^Va) 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 (Mcoln3^Va-J/Mcoln3^Va) are similar to Mcoln3^Va-J/Mcoln3^Va-J mice but are smaller with more white spotting and abnormal behavior. They are deaf and circle vigorously. Viability and fertility of Mcoln3^Va-J/Mcoln3^Va mice are considerably reduced. This strain is also homozygous for the rex spontaneous mutation (Re) and segregating for Danforth's short tail (Sd).

Development

Varitint waddler (Mcoln3^Va) 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 Mcoln3^Va 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.

Allele

Symbol: Pde6b^rd1
Name: retinal degeneration 1
MGI accession ID: MGI:1856373
Generation method: Spontaneous
Synonyms: Pdeb^rd1; rd; rd1; rd-1; rodless retina
Marker symbol: Pde6b
Marker name: phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
Marker synonyms: CSNB3; CSNBAD2; GMP-PDEbeta; nmf137; PDEB; r; rd; rd1; rd10; RP40
Chromosome: 5
Strain of origin: various
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.
General note: The following inbred strains are known to be homozygous for Pde6b: C3H sublines, CBA/J, FVB/NJ, PL/J, SB, SJL/J, and SWR/J.

Allele

Symbol: Krt25^Re
Name: rex
MGI accession ID: MGI:1856137
Generation method: Spontaneous
Synonyms: Re
Marker symbol: Krt25
Marker name: keratin 25
Marker synonyms: 4631426H08Rik; ARWH3; Ka38; KRT24IRS1; Krt25A; mIRSa1
Chromosome: 11
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

Symbol: Mcoln3^Va
Name: varitint waddler
MGI accession ID: MGI:1856230
Generation method: Spontaneous
Synonyms: TRPML3^Va; Va
Marker symbol: Mcoln3
Marker name: mucolipin 3
Marker synonyms: 6720490O21Rik; TRPML3; TRP-ML3; Va; varitint-waddler
Chromosome: 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

Symbol: Etn2^Sd
Name: short Danforth
MGI accession ID: MGI:1857746
Generation method: Spontaneous
Synonyms: Sd(short-Danforth)
Marker symbol: Etn2
Marker name: early transposon element insertion site 2
Marker synonyms: Sd
Chromosome: 2
Strain of origin: Danforth's posterior duplication stock
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.
General note: Phenotypic Similarity to Human Syndrome: Caudal regression syndrome (J:195133)