A large 13,080 bp deletion begins at nucleotide 1616 in intron 10 and extends to nucleotide 1959 in the 3' downstream sequence beyond exon 18. Exon 10 is then spliced to a cryptic "exon 11M" 4213 bp downstream of the deletion breakpoint. Exon 11M is, in turn, spliced to a second cryptic "exon 12M" located 830 bp downstream of exon 11M. The resulting 1724 nucleotide transcript is predicted to code for a 457 amino acid mutant protein. (J:148349)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/cBy
Spontaneous
Intragenic deletion
Recessive
1
--
5

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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