Sequencing studies reveal that this allele comprises the insertion of an extra cytosine residue into splicer acceptor 2, an 18 bp alternatively spliced exon. This exon is missing in transcripts encoded by this allele. The extra C residue is thought to either reduce use of the associated splice acceptor site or result in a frameshift mutation that creates a 19 bp rather than the expected 18 bp exon. (J:21366)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
Insertion
Recessive
1
16
6

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

References Literature

Title
PMID
Journal
Year
IF
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