C3HeB/FeJ-Ets1^vs/J

Stock number: 001292
Product name: variable spotting
Research areas: Dermatology Research

Detailed description

Homozygous variable spotting mice (Ets1^vs) exhibit sporadic white spotting. Ets1 is an active critical enhancer for Sox10 expression in neural crest -derived structures, and this enhancer activation is significantly inhibited by the variable spotting mutation.

Development

The variable spotting (vs) mutation arose spontaneously in 1981 in the Animal Resources colony of C3HeB/FeJ at The Jackson Laboratory when that inbred was at F111. The mutation was maintained by breeding heterozygotes with homozygotes of either gender and in 1988 heterozygous females and homozygous males at F30 and F31 were bred together to generate embryos for cryopreservation.

Allele

Symbol: Ets1^vs
Name: variable spotting
MGI accession ID: MGI:1856643
Generation method: Spontaneous
Attributes: Not Specified
Marker symbol: Ets1
Marker name: E26 avian leukemia oncogene 1, 5' domain
Marker synonyms: c-ets-1; Ets-1; Etsoncb; EWSR2; MGC:18571; p42Ets-1; p51Ets-1; p54; Tpl1; vs
Chromosome: 9
Strain of origin: C3HeB/FeJ
Molecular note: The molecular lesion is a nucleotide G-to-A transition in exon 3 at nucleotide position 647 (or coding nucleotide 305) (RefSeq NM_011808.2), which results in a glycine to glutamate substitution at residue 102 (p.G102E) within the Pointed (PNT) domain of the encoded protein. Multiple sequence alignment showed that this glycine residue is highly conserved among different species.