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Zinc finger nuclease mediated recombination generated a GAC to AAC codon change resulting in an aspartate to asparagine substitution at amino acid 201 (p.D201N). The G to A exchange at position 73,864,249 (GRCm38.p6) disrupts the restriction site for DdeI and corresponds to a human missense mutation seen in L1 syndrome (MASA syndrome) patients. (J:325776)
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
