This allele was generated at The Jackson Laboratory by electroporating Cas9 protein and 2 guide sequences GCTGTAGGAACGTCGTAGGT and GGTGGGGAGAGAAGTAGTCG, which resulted in a 1002 bp deletion beginning at Chromosome 1 position 134,124,648 bp and ending after 134,125,649 bp (GRCm38/mm10). This mutation deletes ENSMUSE00000252306, ENSMUSE00000252298 and ENSMUSE00000252292 (exons 4, 5 and 6) and 577 bp of flanking intronic sequence including the splice acceptor and donor and is predicted to cause a change of amino acid sequence after residue 175 and early truncation 40 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
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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