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EN
The Mocs2A subunit mutation, a C to T change at position 88 (c.88C>T) resulting in a glutamine to a termination codon at amino acid 30 (p.Q30*) was introduced in exon 3. In addition, a loxP-flanked neomycin cassette was inserted downstream of exon 3. This is a variant found in patients with molybdenum cofactor deficiency type B. (J:336726)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
