This allele from project Bpi-8189J-M1381 was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences TTATCTCTGTGACATCGGAG, CCTGGCTGTCTGAAGATGCA, TAGGCTGCTTAGGTTCACCG and TTGATGATCACCCTACAAGG, which resulted in a 284 bp deletion beginning at Chromosome 2 positive strand position 158,260,936 bp, GTCTGAAGATGCAGGGGCTG, followed by 16 retained endogenous bases (GTGGAAACTGCCCGT), followed by a second deletion of 96 bp that ends after TGAGACTTTTTCCTCTGCAG at 158,261,331 bp (GRCm38/mm10). This mutation deletes exon 2 and 281 bp of flanking intronic sequence, including the splice acceptor and donor for exon 2 and the splice acceptor for exon 3. This allele has an additional 11 bp deletion (CATCGGAGTGG) 49 bp before the 284 bp deletion that will not effect the result of the deletion. This mutation is predicted to cause a change of amino acid sequence after residue 44 and early truncation 8 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
--
1

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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