Del(Y)5H
Spontaneous Allele Detail

Summary

• Symbol: Del(Y)5H
• Name: deletion, Chr Y, 5 Harwell; deletion, Chr Y, Harwell 5
• MGI ID: MGI:5470548
• Synonyms: Y^d, Y^d5
• Gene: Del(Y)5H Location: unknown Genetic Position: ChrY, Syntenic

Mutation origin

• Strain of Origin: AKR/J and RIII

Mutation description

• Allele Type: Spontaneous
• Mutation: Intergenic deletion
• Del(Y)5H involves 1 genes/genome features (Rbmyc) View all
• Mutation details: This Y Chr deletion resulted from asymmetric recombination during male meiosis between the short arm of a Y Chr (Yp) of AKR (M. m. domesticus) origin and an X Chr carrying Tp(Y)1Ct^Sxr-a, which originally occurred on the Y Chr in the RIII (M. m. musculus) inbred strain. Southern blot analysis of DNA from female XY^Del(Y)5H mice using probes hybridizing to Yp genes revealed the presence of M. m. musculus, rather than M. m. domesticus, variants at Sry (sex determining region of Chr Y), Zfy1, Zfy2 and Kdm5d (formerly Smcy), demonstrating recombination between Yp and Tp(Y)1Ct^Sxr-a; however, many copies of the Rbmy repeat sequence, residing proximal to Sry, have been deleted. Sry transcript levels in genital ridges of 11.5 day post coitus (dpc) XXY^Del(Y)5H embryos are detectable at much lower levels than in XY embyos; in contrast, transcripts from Kdm5d, which maps distal to Sry between Zfy1 and Zfy2, are similarly abundant in XY^Del(Y)5H and XY 11.5 dpc genital ridges. (J:29526)

Expression

In Structures Affected by this Mutation:

2 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 Del(Y)5H Mutation: 0 strains or lines available

References

• Original: J:29526 Laval SH, et al., Y chromosome short arm-Sxr recombination in XSxr/Y males causes deletion of Rbm and XY female sex reversal. Proc Natl Acad Sci U S A. 1995 Oct 24;92(22):10403-7
• All: 1 reference(s)