Del(Y)1H
Spontaneous Allele Detail

Summary

• Symbol: Del(Y)1H
• Name: deletion, Chr Y, 1 Harwell
• MGI ID: MGI:3043691
• Synonyms: Del1Ct, Y^d-1, Y^d1
• Gene: Del(Y)1H Location: unknown Genetic Position: ChrY, Syntenic

Mutation origin

• Strain of Origin: BALB/cJToxCrcH and RIII

Mutation description

• Allele Type: Spontaneous
• Mutation: Intergenic deletion
• Del(Y)1H 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 BALB/c origin and an X Chr carrying Tp(Y)1Ct^Sxr-a. Whereas Sry (sex determining region of Chr Y) and 16 other single-copy genes and pseudogenes on Yp appear intact by Southern blot or PCR analysis, the unequal exchange resulted in deletion of 3-4 Mb, including 90% of the Rbmy (RNA binding motif protein, Y Chr) repeat sequence family, which resides between Sry and the centromere and normally comprises at least 50 copies. Sry transcripts are undetectable by semiquantitative RT-PCR analysis of RNA from the genital ridges of 11.5 day post coitus (dpc) XY^Del(Y)1H and XXY^Del(Y)1H embryos; in contrast, transcripts from Kdm5d, which maps distal to Sry between Zfy1 and Zfy2, are similarly abundant in XY^Del(Y)2H and XY 11.5 dpc genital ridges. (J:15425, J:29526, J:46791)

Expression

In Mice Carrying this Mutation:	12 assay results
In Structures Affected by this Mutation:	1 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)1H Mutation: 0 strains or lines available

References

• Original: J:15425 Capel B, et al., Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversal. Nat Genet. 1993 Nov;5(3):301-7
• All: 15 reference(s)