This allele was generated at The Jackson Laboratory by electroporating Cas9 protein and 2 guide sequences GCACATGCGGTGCTTACAGC and GGGTTCTATTCAGCCCCACA, which resulted in a 1340 bp deletion beginning at Chromosome 4 position 134,112,348 bp and ending after 134,113,687 bp (GRCm38/mm10). This mutation deletes ENSMUSE00001252036, ENSMUSE00001260575, and ENSMUSE00001254134 (exons 5, 6, and 7) and 1113 bp of flanking intronic sequence including the splice acceptor and donor and is predicted to cause a change of amino acid sequence after residue 66 and early truncation 26 amino acids later. There is a single bp (A) insertion at the deletion site. (J:188991)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NJ
Endonuclease-mediated
Insertion, Intragenic deletion
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

Title
PMID
Journal
Year
IF
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