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A 0.8 kb fragment, which contains part of exon 4 that encodes the terminal 46 amino acids and part of intron 4, was replaced with a neo cassette. The presence of two truncated transcripts (one lacking part of exon 4 and exon 5, and the other lacking all of exon 4) was confirmd by RT-PCR analysis on kindey and liver extracts. (J:131370)
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
