This TALEN-mediated mutation has a 285 bp deletion that includes 272 bp of exon 9 and 13 bp of intron 9, with cDNA sequencing showing the absence of 397 bp from the 3-prime end of exon 9 from the transcript. This is predicted to cause a 132 amino acid deletion then a frameshift resulting in 157 amino acid substitutions with 12 extra amino acids due to late termination. (J:265859)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6.Cg-Crb1rd8 Jak3m1J/BocJ
Endonuclease-mediated
Intragenic deletion
Not Specified
1
12
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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