This allele was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences AGTAGAAGTCTCATAACACT, AAGTAATTTTTAACTGACGC, TCACTCTGCCTATATCCAAA and ATTATCATAGCTTATATCAA, which resulted in a 278 bp deletion beginning at Chromosome 13 negative strand position 64,799,280 bp and ending after 64,799,003 bp (GRCm38/mm10). This mutation deletes ENSMUSE00000321093 (exon 4) and 130 bp of flanking intronic sequence including the splice acceptor and donor. There are 2 additional small deletions, a 5 bp (GGATA) deletion 29 bp before the exon deletion and a 2 bp deletion (GT) 53 bp after he 278 bp deletion, neither of which will alter the results of the exon deletion. This mutation is predicted to cause a change of amino acid sequence after residue 133 and early truncation 21 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
--
1

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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