B6C3 a/A-T(10;13)199H +/+ Lyst^bg-J/J or Lyst^bg-2J/J

Stock number: 000604
Product name: T199H
Research areas: Cardiovascular Research, Dermatology Research, Hematological Research, Immunology, Inflammation and Autoimmunity Research, Internal/Organ Research, Metabolism Research, Mouse/Human Gene Homologs, Research Tools

Description

Mice of this stock carry the T(10;13)199H reciprocal translocation and either Lyst^bg-J or Lyst^bg-2J.

Detailed description

Because males carrying the T(10;13)199H translocation are either sterile or die in utero, the translocation is propagated by mating females carrying the translocation to (C3H-Lyst^bg-2J x B6-Lyst^bg-J)F1 males. Agouti or non-agouti offspring will be carriers of the translocation and offspring having the beige coat color are non-carriers of the translocation.

Development

The translocation was induced by X-irradiation of a (C3H x 101)F1 male, and imported from Harwell via Mary Lyon. Embryos produced by mating B6C3 a/A-T(10;13)199H +/+ -Lyst^bg-J or Lyst^bg-2J females to (C3H-Lyst^bg-2J x B6-Lyst^bg-J)F2 males were cryopreserved in 1990.

Allele

Symbol: Lyst^bg-J
Name: beige Jackson
MGI accession ID: MGI:1855969
Generation method: Spontaneous
Marker symbol: Lyst
Marker name: lysosomal trafficking regulator
Chromosome: 13
Strain of origin: C57BL/6J
Molecular note: This allele is defined by a noncomplementation test with Lyst^bg. This mutation is the result of a 3 bp in-frame deletion in exon 54 causing the loss of one of the two consecutive isoleucines at codon 3740 and 3741 near the carboxy terminus of the protein. This deletion affects the WD40 domain.
General note: This remutation occurred spontaneously in the C57BL/6J strain at The Jackson Laboratory (J:5311). It has essentially identical effects to the original Lyst^bg mutation, and has been used extensively in defining locus effects.

Allele

Symbol: Lyst^bg-2J
Name: beige 2 Jackson
MGI accession ID: MGI:1855970
Generation method: Spontaneous
Marker symbol: Lyst
Marker name: lysosomal trafficking regulator
Chromosome: 13
Strain of origin: Yellow stock
Molecular note: This allele was identified by a noncomplementation test with Lyst^bg. Quantitative reverse transcription showed the molecular fault in the Lyst^bg-2J mutation may be an intronic retrotransposition event causing a five-fold decrease in transcription and mRNA instability.

Allele

Symbol: a
Name: nonagouti
MGI accession ID: MGI:1855937
Generation method: Spontaneous
Marker symbol: a
Marker name: nonagouti
Chromosome: 2
Strain of origin: old mutant of the mouse fancy
Molecular note: Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for a^t-2Gso and A^w-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.
General note: Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039

Allele

Symbol: A
Name: wild-type agouti
MGI accession ID: MGI:1856464
Generation method: Spontaneous
Marker symbol: a
Marker name: nonagouti
Chromosome: 2
Strain of origin: various
Molecular note: This allele, often referred to as wild-type, comprises a novel 131 amino acid protein encoded in a gene comprising four exons, three coding, spanning 18kb. Unique changes in this gene account for all other alleles that have been molecularly characterized. The expression of this allele is almost always dominant to other alleles of this gene.
General note: The A allele is usually regarded as a wild-type allele. For example,the C3H and CBA mouse sublines are homozygous for agouti. Hairs are black with a subapical yellow band. This black-yellow-black pattern is referred to as agouti. The general appearance is yellowish brown, slightly lighter on the belly than on the back.

Allele

MGI accession ID: MGI:104081
Marker symbol: T(10;13)199H
Marker name: reciprocal translocation, Chr 10 and 13, Harwell 199
Chromosome: 13