This allele from project Dusp22-8513J-1842M was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences ATCCTGCTCCTAAGTGCAGG, CATGTTTGCCAAGGCCGTGA, CACTCAAACCCCAAGTCACA and CCCTGGCAATACCTTTTTGA, which resulted in a 490 bp deletion beginning at Chromosome 13 positive strand position 30,668,607 bp, GCAGGGGGTTGAAAGATTAC, and ending after TACCCTGGCAATACCTTTTT at 30,669,096 bp (GRCm38/mm10). This mutation deletes exon 2 and 456 bp of flanking intronic sequence including the splice acceptor and donor. In addition 71 bp upstream of the 490 bp deletion there is a deletion of 78 bp (Chr:13 30,668,458 bp - 30,668,535 bp) of intronic sequence that was replaced with 73 bp, the majority of which derived from the opposite strand of the excised sequence that reinserted in reverse orientation and should not alter the effect of the exon deletion. This mutation is predicted to cause a change of amino acid sequence after residue 7 and early truncation 7 amino acids later. (J:188991)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NJ
Endonuclease-mediated
Intragenic deletion, Inversion
Not Specified
1
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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

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PMID
Journal
Year
IF
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