This allele from project Retnlg-8758J-9754M was generated at The Jackson Laboratory by injecting Cas9 RNA and 3 guide sequences GAGATCACTGAGCTATGGGA, TGAAAGTATTTACTGCATTG and AAGAGCTTAGACCAGGGTAC, which resulted in a 243 bp deletion beginning at Chromosome 16 positive strand position 48,872,815 bp ATAGCTCAGTGATCTCATCT, and ending after GAGCTTTTGCTGATGCTGAC at 48,873,057 bp (GRCm38/mm10). This mutation deletes ENSMUSE00000980093 (exon 2) and 91 bp of flanking intronic sequence including the splice acceptor, ATG start site and splice donor. In addition there is a single bp insertion, A, 216 bp before the deletion that is not expected to alter the results of the exon deletion. This mutation is predicted to cause an early truncation after 6 amino acids. (J:188991)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
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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