FlyBase Allele Report: Hsap\L1CAM[H38.UAS]

General Information

Symbol

Hsap\L1CAM^H38.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0291419

Feature type

allele

Associated gene

Hsap\L1CAM

Associated Insertion(s)

Carried in Construct

P{UAS-L1CAM.H38}

Key Links

Transgenic product class

missense_variant

(Nagaraj et al., 2009)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Nagaraj et al., 2009)

Mutagen

in vitro construct

(Nagaraj et al., 2009)

Progenitor genotype

Carried in construct

P{UAS-L1CAM.H38}

Cytology

Description

UASt regulatory sequences drive expression of a mutant version of the neuronal form of Hsap\L1CAM in which the glutamate at amino acid 309 has been replaced by lysine.

(Nagaraj et al., 2009)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

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.

(Nagaraj et al., 2009)

L1CAM:p.Glu309Lys

(FlyBase curators, 2019-)

Variants Synonym(s)

L1CAM:p.Glu304Lys

Associated human disease model(s)

L1 syndrome

External database links

UniProtKB/Swiss-Prot variant: L1CAM_VAR_003930

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

Expression of Hsap\L1CAM^H38.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

Suppressor of

Statement

Reference

Hsap\L1CAM^H38.UAS/Scer\GAL4^shot-OK307 is a suppressor of abnormal neuroanatomy | adult stage phenotype of Nrg⁸⁴⁹

(Kudumala et al., 2013)

Hsap\L1CAM^H38.UAS/Scer\GAL4^shot-OK307 is a suppressor of abnormal neurophysiology | adult stage phenotype of Nrg^180ΔFIGQY, Nrg^l4

(Kudumala et al., 2013)

Hsap\L1CAM^H38.UAS/Scer\GAL4^shot-OK307 is a suppressor of abnormal neuroanatomy | adult stage phenotype of Nrg^180ΔFIGQY, Nrg^l4

(Kudumala et al., 2013)

NOT Suppressor of

Statement

Reference

Hsap\L1CAM^H38.UAS/Scer\GAL4^MS1075 is a non-suppressor of abnormal neuroanatomy phenotype of Nrg^l3

(Nagaraj et al., 2009)

Phenotype Manifest In

Suppressor of

Statement

Reference

Hsap\L1CAM^H38.UAS/Scer\GAL4^shot-OK307 is a suppressor of giant fiber neuron | adult stage phenotype of Nrg⁸⁴⁹

(Kudumala et al., 2013)

Hsap\L1CAM^H38.UAS/Scer\GAL4^shot-OK307 is a suppressor of giant fiber neuron | adult stage phenotype of Nrg^180ΔFIGQY, Nrg^l4

(Kudumala et al., 2013)

Hsap\L1CAM^H38.UAS/Scer\GAL4^shot-OK307 is a suppressor of adult neuromuscular junction | adult stage phenotype of Nrg^180ΔFIGQY, Nrg^l4

(Kudumala et al., 2013)

NOT Suppressor of

Statement

Reference

Hsap\L1CAM^H38.UAS/Scer\GAL4^MS1075 is a non-suppressor of mechanosensory neuron phenotype of Nrg^l3

(Nagaraj et al., 2009)

Hsap\L1CAM^H38.UAS/Scer\GAL4^MS1075 is a non-suppressor of ocellar nerve phenotype of Nrg^l3

(Nagaraj et al., 2009)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\L1CAM^H38.Scer\UAS significantly suppresses the giant fibre axon guidance defects seen in Nrg⁸⁴⁹ mutant flies.

Expression of Hsap\L1CAM^H38.Scer\UAS under the control of Scer\GAL4^OK307 significantly suppresses 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)

Expression of Hsap\L1CAM^H38.Scer\UAS under the control of Scer\GAL4^MS1075 does not suppress the bristle mechanosensory (BM) axonal defects seen in Nrg^l3 mutant flies.

(Nagaraj et al., 2009)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

64156

w^*; P{UAS-L1CAM.H38}3/TM2

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Hsap\L1CAM^H38.Scer\UAS

Hsap\L1CAM^H38.UAS

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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