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A PGK-neo was inserted to replace the 3' end of one of the four exons encoding the X domain. RT-PCR demonstrated the presence of a shortened transcript in mutant heart samples. Sequence analysis revealed a deletion of another upstream exon, presumably caused by exon skipping upon RNA splicing. The resulting allele contains an in-frame deletion of amino acids 1333 to 1408, corresponding to the amino terminal end of the catalytic X domain. (J:94952, J:97661)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
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
