This allele was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences GGATTCTAGCAGGTGTTGTA, GTGTCCCACTCCCAAGAACC, TTACAATGGGCTGGGTGGGA and GAGTTTACAATGGGCTGGGT, which resulted in a 531 bp deletion beginning at Chromosome 1 positive strand position 86,024,199 bp and ending after 86,024,729 bp (GRCm38/mm10). This mutation deletes ENSMUSE00000695237 (exon 4) and 356 bp of flanking intronic sequence including the splice acceptor and donor. In addition there is an indel with an 8bp insertion (GGTTTTTT) and a 10 bp deletion (TGTCTATTTA) 85 bp after the 531 bp deletion that will not alter the results of the exon deletion. This mutation is predicted to cause a change of amino acid sequence after residue 100 and truncation 38 amino acids later by read through of the stop codon into the 3 untranslated sequence. (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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