This spontaneous T insertion/duplication (an extra T in the poly(T) stretch) between chromosome 2 76,636,870-76 bp (GRCm38) causes a frameshift that introduces 7 novel amino acids followed by a premature stop codon. (J:223062)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BTBR T+ Itpr3tf/J
Spontaneous
Insertion
Recessive
1
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

Title
PMID
Journal
Year
IF
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