Transgenic Construct

Tg(pvalb9:Hsa.CLRN1_c.144T>G-YFP)

ID
ZDB-TGCONSTRCT-161017-2
Name
Tg(pvalb9:Hsa.CLRN1_c.144T>G-YFP)
Previous Names
  • Tg hCLRN1N48K-YFP (1)
  • Tg(pvalb3b:Hsa.CLRN1_N48K-YFP) (1)
  • Tg(pvalb9:Hsa.CLRN1_N48K-YFP) (1)
Type
engineered_plasmid
Regulatory Regions
Coding Sequences
[Em λ][Ex λ]
Fpbase:EYFP
Contains Sequences
Note
In this construct, pvalb9 promoter sequence drives expression in zebrafish hair cells of the pathogenic variant c.144T>G in human clarin1 (CLRN1). In humans, this variant causes Usher syndrome IIIA (USH3A), a rare genetic disorder that results in progressive loss of vision and hearing. c.144T>G substitutes lysine (K) for asparagine (N) at position 48, a conserved N-glycosylation site, resulting in glycosylation-deficient CLRN1 which is retained in the endoplasmic reticulum (ER) and is prone to degradation by the proteasome
Plasmid Map
None
Genomic Features
That Utilize Tg(pvalb9:Hsa.CLRN1_c.144T>G-YFP) Construct
Genomic Feature Affected Genomic Regions
cwr1006Tg
Transgenics
That Utilize Tg(pvalb9:Hsa.CLRN1_c.144T>G-YFP) Construct
Fish Affected Genomic Regions Phenotype Gene Expression
clrn1cwr1003/cwr1003; cwr1006Tg 2 figures from Gopal et al., 2019 Fig. 2 from Gopal et al., 2019
cwr1006Tg
2 figures from 2 publications
Sequence Information
Other Construct Pages
None
Citations