This allele from project Mcmbp-7557J-M9618 was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences CTGCGCTACTTCTAGTCACG, TTCTGTGTTGTGCCTCTAGA, GGACACTCACAGGTATTCAA and TCACCAGGCACCGCAAACCC, which resulted in a 361 bp deletion spanning exon 2 beginning at Chromosome 7 negative strand position 128,725,395 bp, AGGGAGCTAAGGGCAAGCAG, and ending after CCGCCCCACCAGCCACGTGAC at 128,725,035 bp (GRCm38/mm10). This mutation deletes exon 2 and 275 bp of flanking intronic sequence including the splice acceptor and donor. There is also a small 10 bp deletion (gcctctagat) 82 bp after the 361 bp deletion that will not affect the results of the mutation. This mutation is predicted to result in a change in amino acid sequence after residue 19 and an early truncation after an additional 28 amino acids. (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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