The sequence at the intron exon boundary between intron 14 and exon 15 was modified from TCTCCCCACAG GCA TCC CGA CGC to TCTCCAG ACA GGC ATC TAG GCGC. These nucleotide substitutions alter the splice acceptor site and result in amino acid substitutions plus the formation of a stop codon that prevents the translation of the remaining 43 amino acids. 90% of transcripts utilize the alternative splice acceptor site while 10% utilize the endogenous splice acceptor site and produce full-length transcripts. (J:145759)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Nucleotide substitutions
--
1
5
1

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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