Zebrafish gene: syngap1b
Human gene: SYNGAP1 (synaptic Ras GTPase activating protein 1)
Homology score: 65%
ClinVar variants: 132
Gene description: Predicted to have GTPase activator activity. Involved in brain morphogenesis and swimming behavior. Is expressed in hindbrain and optic tectum. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 5. Orthologous to human SYNGAP1 (synaptic Ras GTPase activating protein 1).
ZFIN link: https://zfin.org/ZDB-GENE-100921-2
Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000069765;r=16:45456066-45689083;t=ENSDART00000093365
Zebrafish reference(s): n/a
This gene has 2 transcripts (splice variants).
WT DNA sequence (mutation area: exon 9)
Mutant DNA sequence (mutation area: 4 bp deletion + 2 bp insertion in exon 9)
Guide RNA target sites: taatacgactcactataGGCAAGGGTGGCGGCGTCGGgttttagagctagaa
Primers:
Forward primer: ACGTACCTTGGCTTGGTCAG
Reverse primer: AGAGCACAGGCCACTTCTTC
WT Protein sequence
N = 80
