Adam17^woe
Spontaneous Allele Detail

Summary

• Symbol: Adam17^woe
• Name: a disintegrin and metallopeptidase domain 17; waved with open eyelids
• MGI ID: MGI:3625359
• Synonyms: Adam17^delta252-281, Adam17^deltaexon7, Adam17^T265M, wa3
• Gene: Adam17 Location: Chr12:21373510-21423633 bp, - strand Genetic Position: Chr12, 8.3 cM
• Alliance: Adam17^woe page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A spontaneous C to T transition at coding nucleotide 794 (c.794C>T) in exon 7 results in the amino acid substitution of threonine with methionine at position 265 (p.T265M). This mutation also disrupts splicing. The major transcript lacks exon 7, which corresponds to residues 252-281 of the metalloprotease domain. The absence of mature protein expression was confirmed by western blot analysis on mouse embryonic fibroblast extracts. The truncated product is functionally inactive but exhibits constitutive and stimulated substrate shedding. (J:160781)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

16 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 Adam17 Mutation: 64 strains or lines available

References

• Original: J:156373 Chang B, et al., Mouse models of ocular diseases. Vis Neurosci. 2005 Sep-Oct;22(5):587-93
• All: 4 reference(s)