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EN
Exon 2 was replaced with one in which nucleotide substitutions result in the amino acid substitution of proline with arginine at position 355 in the encoded protein (p.P355R), mimicking a mutation found in some X-linked lissencephaly patients. A neomycin resistance gene cassette was inserted into intron 2. (J:152416)
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
