This allele was generated at The Jackson Laboratory by electroporating Cas9 protein and 2 guide sequences TCTGGAGGACCACTGTTGTG and ATTTAATGTGACTTCCGGGC, which resulted in a 1660 bp deletion beginning at Chromosome 5 position 30,957,801 bp and ending after 30,959,460 bp (GRCm38/mm10). This mutation deletes ENSMUSE00000272694, ENSMUSE00001296365, ENSMUSE00000186434, ENSMUSE00001210652 and ENSMUSE00001228688 (exons 2, 3, 4, 5, and 6) and 869 bp of flanking intronic sequence including the splice acceptor and donor and is predicted to cause a change of amino acid sequence and early truncation after residue 45. (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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