Mice were identified in a screen of ENU mutants for developmental defects. Mice have a G to A transition in exon 28 at position 4299 of cDNA ENSMUST00000099494 leading to a valine to methionine substitution at amino acid residue 1330 in the ATPase domain. Western blot analysis indicates that protein levels are 10% of levels in controls. (J:173663)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Chemically induced
Single point
--
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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