Hsf4^ldis1
Spontaneous Allele Detail

Summary

• Symbol: Hsf4^ldis1
• Name: heat shock transcription factor 4; lens disruptor 1
• MGI ID: MGI:3056560
• Synonyms: Hsf4^lop11, lens opacity locus 11, lop11
• Gene: Hsf4 Location: Chr8:105996433-106002477 bp, + strand Genetic Position: Chr8, 53.04 cM, cytoband D1
• Alliance: Hsf4^ldis1 page

Mutation origin

• Strain of Origin: RIIIS/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: A 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

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• 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: 30 strains or lines available

References

• 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)