This allele from project Spata31d1d-8598J-8838F was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences GGAATAAGTGTATAAACTGG, GCATAGCCTACTCTTGTCAT, TGGACGTTTTGGGGATCCTA and TTCATCTGCAAGTTTCAGGC, which resulted in a 824 bp deletion beginning at Chromosome 13 negative strand position 59,730,873 bp, ATCCTAGGGAAAACATCAGG, and ending after TAGCCTACTCTTGTCATGGG at 59,730,050 bp (GRCm38/mm10). This mutation deletes exons 2-3 and 720 bp of flanking intronic sequence including the splice acceptor and donor. In addition there is an additional 14 bp deletion 27 bp after the 824 bp deletion that will not alter the results of the exon deletions. This mutation is predicted to cause a change of amino acid sequence after residue 66 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
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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

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PMID
Journal
Year
IF
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