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EN
ENU mutagenesis induced a point mutation (T to A) in the consensus splice site at the end of exon 7. RT-PCR confirmed the production of two altered transcripts. MutA introduces a foreign amino acid codon from intron 7 sequences. Mut B leaves the open reading frame intact without the 54 amino acids encoded in exon 7. This allele is an extreme hypomorph due to the production of low levels of normally spliced product. (J:86161, J:218515)
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
