Del(Y)2H
Spontaneous Allele Detail

Summary

• Symbol: Del(Y)2H
• Name: deletion, Chr Y, 2 Harwell
• MGI ID: MGI:5446732
• Synonyms: Y^d, Y^d-2, Y^d2
• Gene: Del(Y)2H Location: unknown Genetic Position: ChrY, Syntenic

Mutation origin

• Strain of Origin: C57BL/6JHCt and RIII

Mutation description

• Allele Type: Spontaneous
• Mutation: Intergenic deletion
• Del(Y)2H involves 1 genes/genome features (Rbmyc) View all
• Mutation details: This Y Chromosome (Chr) deletion resulted from asymmetric recombination during male meiosis between the short arm of a Y Chr (Yp) of C57BL/6 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 analysis, all except a few copies 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, have been deleted. Sry transcript levels in genital ridges of 11.5 day post coitus (dpc) XXY^Del(Y)2H 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)2H and XY 11.5 dpc genital ridges. Conversely, testis-specific Sry transcripts from both the intact Y Chr and Y^Del(Y)1H are detected in testes of XYY^Del(Y)2H male mice by RT-PCR followed by MboI digestion, which distinguishes the M. m. musculus vs. M. m. domesticus Sry variants; cloning of intact RT-PCR products yielded 7/16 M. m. musculus-derived clones. (J:15425, 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)2H 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: 2 reference(s)