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Spontaneous Allele Detail
Symbol: Hsf4ldis1
Name: heat shock transcription factor 4; lens disruptor 1
MGI ID: MGI:3056560
Synonyms: Hsf4lop11, lens opacity locus 11, lop11
Gene: Hsf4  Location: Chr8:105269801-105275845 bp, + strand  Genetic Position: Chr8, 53.04 cM, cytoband D1
Strain of Origin:  RIIIS/J
Allele Type:    Spontaneous
Mutation:    Insertion
Mutation detailsA 5542 bp early transposablle element (Y17106) is inserted 61 bp upstream of the 5' intron/exon junction of exon 10 but in intron 9. The resulting protein migrated in western blots as a 40KDa band rather than the normal 55KDa size, indicating a truncated protein. The loss of 132 amino acids from the COOH-terminus results in the failure of trimer formation. (J:124225)
Inheritance:    Recessive
View phenotypes for all genotypes (concatenated display).
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Hsf4 Mutation:  2 strains or lines available
Original:  J:93209 Jablonski MM, et al., The ldis1 lens mutation in RIIIS/J mice maps to chromosome 8 near cadherin 1. Mol Vis. 2004 Aug 23;10:577-87
All:  4 reference(s)

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MGI 6.01
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