This allele from project Tusc3-6898J-M247 was generated at The Jackson Laboratory by injecting Cas9 RNA and 3 guide sequences, GATGGGAGTGAATCCAAGGG, ACGATCATGGAGTAGTTCCG and ATCTCGCTCTAAGTCTAAGT, which resulted in a 106 bp deletion beginning in exon 2 at Chromosome 8 positive strand position 39,046,620 bp, at CGGAACTACTCCATGATCGTCATG, and ending after CCTTGAGAAAAGCAGCAGCCTA at position 39,046,725 bp in intron 3 (GRCm38). This mutation deletes 64 bp in exon 2 and 42 bp into intron 3 removing the splice donor site. This mutation is predicted to cause an early truncation after amino acid residue 81 and early truncation after amino acid residue 83. In addition there is a 23 bp deletion in intron 2 (AAGGGAGGAACACCCTGTAACTT) Chromosome 8 positive strand position 39,046,469 - 39,046,492 bp, which is not predicted to affect the amino acid sequence. (J:188991)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NJ
Endonuclease-mediated
基因内删除
不确定
1
3
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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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