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CZRC Catalog ID: CZ401
Availability: Frozen sperm
Genotype: gbf1tsu3994/+
Affected Gene: gbf1 
Genotyping: pdf
GENOTYPE COMPOSITION
Genomic Feature Zygosity Parental Genotype Lab of Origin Construct
tsu3994 heterozygous Meng Lab
Background: AB Affectedgeneurl: unspecified Linetype: Mutant Previous Names: unspecified Background: AB Affectedgeneurl: unspecified Linetype: Mutant Previous Names: unspecified
Note:
tsu3994 mutant embryos carry a T to G single nucleotide substitution in the 23rd exon. This T to G mutation is predicted to cause a leucine to arginine substitution (L1246R for X5 isoform of Gbf1) in Gbf1 protein, which is highly conserved across animal species from Caenorhabditis elegans to human. According to the NCBI database, zebrafish gbf1 may produce five transcription variants (X1– X5), which all encode an identical protein except for a few amino acids in the non-conserved linker regions. The full-length Gbf1 X5 isoform (WT) consists of 1846 residues and the L1246R mutation resides in the highly conserved HDS2 domain.
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