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This mutation comprises an inversion of an X chromosome segment with breakpoints distal to Amel and proximal to the PAR marker DXYHgu1. The mutation in this allele is within a ~0.2 cM interval that includes the boundary of the pseudoautosomal region (PAR), a sequence common to the X and Y chromosomes. As a consequence X-Y nondisjunction occurs in hemizygous males, resulting in XO and XXY progeny. (J:10459, J:52077)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
