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A 1.74kB genomic sequence encompassing exon 2 is deleted in mutant mice (g.52662-55846delinsRTLR; GenBank accession no. AB560874). Transcripts show aberrant splicing from exon 1 to 3, generating a frame shift and premature stop codons (p.Asp266AlafsX74 and p.Asp266GlyfsX73). (J:180189)
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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References Literature
Title
PMID
Journal
Year
IF
