Proceedings of the Japan Academy, Series B
Online ISSN : 1349-2896
Print ISSN : 0386-2208
ISSN-L : 0386-2208
Original Papers
Hermaphrodism and sex reversal associated with the dominant hemimelia mutation in XY mice
Jun-ichi SUTO
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JOURNAL FREE ACCESS

2009 Volume 85 Issue 8 Pages 337-347

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Abstract

After two generations of backcrossing six different Y-consomic strains onto a C57BL/6J inbred mouse strain with a dominant hemimelia (Dh) mutation, a small percentage of Dh/+ males containing a Y chromosome from the AKR/J or RF/J strain showed hermaphrodism; they lacked the right testis and had an ovary and a uterus instead. Approximately 15% of Dh/+ females considered to be phenotypically normal had the Sry gene from the AKR/J or RF/J strain; they were actually sex-reversed XY females. Backcrossing of Y chromosomes from BALB/cA, C3H/HeJ, C57BL/6J, DH/Sgn, and DDD/Sgn onto the C57BL/6J strain with Dh did not result in hermaphrodism or sex reversal in adult mice. Subsequent linkage mapping analysis revealed that at least one C57BL/6J-derived homozygous allele at a locus on chromosome 13 was required for hermaphrodism and sex reversal. This condition was genetically distinct from known inherited sex-reversal conditions. It therefore offers a novel opportunity to investigate the genetic basis of sex determination in mammals.

(Edited by Akira IRITANI, M.J.A.)

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© 2009 The Japan Academy
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