A 3-bp deletion which results in the loss of a single, highly conserved, phenylalanine residue 233F close to the C terminus of the protein. (J:161749)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
STOCK T Itpr3tf/+ Itpr3tf
Spontaneous
Intragenic deletion
Recessive
1
--
9

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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