This mutation was discovered in a screen of G3 progeny of N-ethyl, N-nitrosourea-treated male mice for morphological defects at embryonic day (e) 9.5. It has been identified as a T-o-G transversion (GRCm39:chr16:62651104A>C) in the splice donor sequence of exon 2 which has been shown by RT-PCR to result in exclusion of this exon from mature transcripts and thus of most of a putative GTPase domain, including four consensus nucleotide binding sites, from the encoded protein. Immunoblot analysis reveals the absence of either normally-present protein isoform in mutant embryos. (J:120712)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
2
15

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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