This allele from project Gimap3-8295J-F2029 was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences TTTCCTGCCCCCAAAAAGAA, TAAGCCAGCAACAGGCTAGC, GCAATGGCCTATCATCTCAG and GTAATGTTGGTAAAGCAGAG, which resulted in a 930 bp deletion beginning at Chromosome 6 negative strand position 48,766,201 bp ATCATCTCAGAGGAAGGTCC, and ending after AAGCCTATAGGTGCTACCTG at 48,765,272 bp (GRCm38/mm10). This mutation deletes 695 bp of exon 2 and 235 bp of intron 1 sequence including the splice acceptor. In addition there is an 8 bp deletion (GCTAGCAG) 304 bp after the 930 bp deletion that will not alter the results of the mutation. This mutation is predicted to cause a change of amino acid sequence after residue 10 and early truncation 14 amino acids later, possibly due to read through of intron 1. (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
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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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