CRISPR-targeting was used to produce a C-to-G mutation in the splice acceptor region of intron 4 (changing it from CAG to GAG) to exclude exon 5 in the mature transcript. Additionally, the allele contains a synonymous exonic nucleotide substitution 11 bp 3' to the primary mutation site. The splice region mutation recreates the spontaneous mutation found in C57BL/6J mice: Snrnp40. (J:282417)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
Nucleotide substitutions
--
1
--
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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