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Guide RNAs (gaacgccggagtgattgagc and atgctgtgtacatcaatctc) are designed to delete 109 base pairs in exon 7. Exon 7 in humans contains a disease-causing mutation present in multiple families with intellectual disability (ID). Western blot analysis confirms the absence of protein in brain lysates. (J:304877)
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
