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)1CtSxr-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) XYDel(Y)1H and XXYDel(Y)1H embryos; in contrast, transcripts from Kdm5d, which maps distal to Sry between Zfy1 and Zfy2, are similarly abundant in XYDel(Y)2H and XY 11.5 dpc genital ridges. (J:15425, J:29526, J:46791)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
BALB/cJToxCrcH and RIII
Spontaneous
Intergenic deletion
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15

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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