FlyBase Allele Report: Hsap\KPNB1[DN.UAS]

General Information

Symbol

Hsap\KPNB1^DN.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0130995

Feature type

allele

Associated gene

Hsap\KPNB1

Associated Insertion(s)

Carried in Construct

P{UAS-hKPNB1.DN}

Key Links

Transgenic product class

dominant_negative_variant

(Kumar et al., 2001)

inframe_deletion

(Kumar et al., 2001)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

dominant_negative_variant

(Kumar et al., 2001)

inframe_deletion

(Kumar et al., 2001)

Mutagen

in vitro construct

(Kumar et al., 2001)

Progenitor genotype

Carried in construct

P{UAS-hKPNB1.DN}

Cytology

Description

UASt regulatory sequences drive expression of a dominant-negative form of Hsap\KPNB1 (contains amino acid residues 45-462 of the wild-type coding sequence).

(Kumar et al., 2001)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\KPNB1

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)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy, with Scer\GAL4^GMR.15

(Kumar et al., 2001)

lethal - all die during embryonic stage, with Scer\GAL4^ptc-559.1

(Kumar et al., 2001)

some die during embryonic stage, with Scer\GAL4^ptc-559.1

(Kumar et al., 2001)

wild-type, with Scer\GAL4^ey.PH

(Kumar et al., 2001)

wild-type, with Scer\GAL4^hs.PB

(Kumar et al., 2001)

wild-type, with Scer\GAL4^sca-537.4

(Kumar et al., 2001)

Phenotype Manifest In

embryo, with Scer\GAL4^ptc-559.1

(Kumar et al., 2001)

embryonic/larval optic lobe, with Scer\GAL4^GMR.15

(Kumar et al., 2001)

eye, with Scer\GAL4^GMR.12

(Kumar et al., 2001)

eye, with Scer\GAL4^GMR.15

(Kumar et al., 2001)

eye disc, with Scer\GAL4^GMR.15

(Kumar et al., 2001)

eye disc & axon, with Scer\GAL4^GMR.15

(Kumar et al., 2001)

eye photoreceptor cell, with Scer\GAL4^GMR.15

(Kumar et al., 2001)

eye photoreceptor cell | ectopic, with Scer\GAL4^GMR.15

(Kumar et al., 2001)

glial cell, with Scer\GAL4^GMR.15

(Kumar et al., 2001)

ommatidium, with Scer\GAL4^GMR.12

(Kumar et al., 2001)

ommatidium, with Scer\GAL4^GMR.15

(Kumar et al., 2001)

Detailed Description

Statement

Reference

Scer\GAL4^ptc-559.1 driven by Scer\GAL4^ptc-559.1 leads to embryonic lethality, due to a non-specific developmental arrest at gastrulation and before germ-band retraction. When Hsap\KPNB1^Scer\UAS.cKa is driven by Scer\GAL4^ey.PH, Scer\GAL4^sca-537.4 or Scer\GAL4^hs.PB no phenotype is seen. When Hsap\KPNB1^Scer\UAS.cKa is driven by Scer\GAL4^GMR.15 (or to a lesser extent Scer\GAL4^GMR.12) a reduced eye phenotype is seen due to missing ommatidia. Eyes can be rough, glazed, reduced in size, or completely lacking eye structure depending on the number of copies on the insert or driver. When Hsap\KPNB1^Scer\UAS.cKa, Hsap\KPNB1^Scer\UAS.cKa larval imaginal discs are examined, the initial pattern of recruitment of photoreceptors is similar to wild-type. However, projecting photoreceptor axons do not reach the optic stalk and continue to project, forming a tangled web of misguided axons near the entrance to the optic stalk. This phenotype is seen in axons that originate from ommatidia situated in the centre of the eye field, axons originating from the posterior-lateral margins navigate to the optic stalk correctly. Expression of Hsap\KPNB1^Scer\UAS.cKa also causes photoreceptors to descend from the epithelium into the optic stalk. These defects seem to be due to a loss of cell adhesion in mutants. Hsap\KPNB1^Scer\UAS.cKa expression also causes defects in glial migration, these defects correlate in severity with the axon guidance phenotype, suggesting that it is the result of misrouted axons.