FlyBase Allele Report: Hsap\L1CAM[R184Q.UAS]

General Information

Symbol

Hsap\L1CAM^R184Q.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0291791

Feature type

allele

Associated gene

Hsap\L1CAM

Associated Insertion(s)

Carried in Construct

P{UAS-L1CAM.R184Q}

Key Links

Transgenic product class

missense_variant

(Kudumala et al., 2013)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Kudumala et al., 2013)

Mutagen

in vitro construct

(Kudumala et al., 2013)

Progenitor genotype

Carried in construct

P{UAS-L1CAM.R184Q}

Cytology

Description

UAS regulatory sequences drive expression of a mutant version of Hsap\L1CAM in which the arginine at amino acid 184 has been replaced by glutamine.

(Kudumala et al., 2013)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\L1CAM

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Kudumala et al., 2013)

L1CAM:p.Arg184Gln

(FlyBase curators, 2019-)

Variants Synonym(s)

L1CAM:p.Arg179Gln

Associated human disease model(s)

L1 syndrome

External database links

ClinVar: L1CAM_9991

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

Expression of Hsap\L1CAM^{R184Q.Scer\UAS} under the control of Scer\GAL4^OK307 has no effect on Giant Fibre (GF) synapse functionality.

(Kudumala et al., 2013)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Suppressor of

Statement

Reference

Hsap\L1CAM^R184Q.UAS/Scer\GAL4^shot-OK307 is a non-suppressor of abnormal neuroanatomy | adult stage phenotype of Nrg⁸⁴⁹

(Kudumala et al., 2013)

Hsap\L1CAM^R184Q.UAS/Scer\GAL4^shot-OK307 is a non-suppressor of abnormal neurophysiology | adult stage phenotype of Nrg^180ΔFIGQY, Nrg^l4

(Kudumala et al., 2013)

Hsap\L1CAM^R184Q.UAS/Scer\GAL4^shot-OK307 is a non-suppressor of abnormal neuroanatomy | adult stage phenotype of Nrg^180ΔFIGQY, Nrg^l4

(Kudumala et al., 2013)

Phenotype Manifest In

NOT Suppressor of

Statement

Reference

Hsap\L1CAM^R184Q.UAS/Scer\GAL4^shot-OK307 is a non-suppressor of giant fiber neuron | adult stage phenotype of Nrg⁸⁴⁹

(Kudumala et al., 2013)

Hsap\L1CAM^R184Q.UAS/Scer\GAL4^shot-OK307 is a non-suppressor of giant fiber neuron | adult stage phenotype of Nrg^180ΔFIGQY, Nrg^l4

(Kudumala et al., 2013)

Hsap\L1CAM^R184Q.UAS/Scer\GAL4^shot-OK307 is a non-suppressor of adult neuromuscular junction | adult stage phenotype of Nrg^180ΔFIGQY, Nrg^l4

(Kudumala et al., 2013)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\L1CAM^{R184Q.Scer\UAS} does not suppress the giant fibre axon guidance defects seen in Nrg⁸⁴⁹ mutant flies.

Expression of Hsap\L1CAM^{R184Q.Scer\UAS} under the control of Scer\GAL4^OK307 does not suppress the Giant Fibre (GF)-Trochanteral Muscle (TTM) synapse functional and morphological defects seen in flies expressing Nrg^180ΔFIGQY in a Nrg^l4 mutant background.

(Kudumala et al., 2013)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

64276

w^*; P{UAS-L1CAM.R184Q}2

64154

w^*; P{UAS-L1CAM.R184Q}3/TM2