In(2a;Itch)18H
Chemically and radiation induced Allele Detail

Summary

• Symbol: In(2a;Itch)18H
• Name: inversion, Chr 2, 18 Harwell
• MGI ID: MGI:4822472
• Synonyms: a^18H, Itch^-, Itch^a-18H, itchy, nonagouti 18 Harwell
• Gene: In(2a;Itch)18H Location: unknown Genetic Position: Chr2, Syntenic

Mutation origin

• Strain of Origin: C3H/HeH

Mutation description

• Allele Type: Chemically and radiation induced
• Mutation: Inversion
• In(2a;Itch)18H involves 9 genes/genome features (Raly, 8030497I03Rik, Eif2s2 ...) View all
• Mutation details: This allele comprises a paracentric inversion that affects minimally two loci, agouti and Itch. A deletion of 18 and 20 bp from the proximal and distal breakpoints, respectively, occurred when the inversion was formed. Restriction digests of genomic clones suggests the distal breakpoint is located in intronic sequences between exons 1 (nts 1-98) and 2 (nts 99-189). Exon 2 of Itch was localized to within 600 bp distal to the inversion's distal breakpoint, placing exon 1 within the inverted region and near the proximal breakpoint. Exon trapping technology revealed that the distal breakpoint encompasses a novel E3 ubiqutin protein ligase. Northern analysis showed that this allele is missing a 5.1-kb message sequence when probed with Itch cDNA normally found in wild-type mice; the inversion event appears to have removed the promoter from the coding region of the Itch gene. (J:45910)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any In(2a;Itch)18H Mutation: 1 strain or line available

Notes

This allele was induced in the presence of both X-rays and hydroxy urea.

References

• Original: J:163587 Cattanach BM, et al., Agouti locus mutations at Harwell. Mouse News Lett. 1987;77:123-125
• All: 35 reference(s)