A failed complementation test with bouncy 3 Jackson proved the two allelic and exome sequencing identified a single G-to-A transversion at chromosome 18 position 45,685,419 (GRCm38) in bouncy 6 Jackson, which causes a nonsense mutation changing tryptophan to a stop codon at residue 345 in the last exon (NP_536713:p.W345*, ENSMUSP00000067884:p.W610*, NP_001299834:p.W620*). (J:215011, J:222308)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
3
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

Title
PMID
Journal
Year
IF
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