FlyBase Allele Report: Dmel\shg[g119]

General Information

Symbol

Dmel\shg^g119

Species

D. melanogaster

Name

FlyBase ID

FBal0050503

Feature type

allele

Associated gene

Dmel\shg

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

loss of function allele

Mutagen

gamma ray

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Harris and Peifer, 2004)

loss of function allele

(Tepass et al., 1996)

Mutagen

gamma ray

(Tepass et al., 1996)

Progenitor genotype

Cytology

Description

shg^g119 has an in-frame deletion of four conserved amino acids in the membrane-proximal lamininG domain in the extracellular domain.

(Fox et al., 2005)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

2R:21,051,574..21,051,585 [-]

Comment:

An in-frame deletion of four conserved amino acids.

(Fox et al., 2005)

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 cell shape | recessive

(Harris and Peifer, 2004)

lethal | recessive

(Myster et al., 2003)

lethal - all die during embryonic stage | recessive

(Tepass et al., 1996)

some die during embryonic stage | recessive

(Tepass et al., 1996)

Phenotype Manifest In

embryonic/first instar larval cuticle & embryonic head

(Fox et al., 2005)

embryonic head & embryonic/first instar larval cuticle

(Tepass et al., 1996)

embryonic head epidermis

(Myster et al., 2003)

epithelial cell

(Harris and Peifer, 2004)

oocyte

(Gonzalez-Reyes and St. Johnston, 1998)

presumptive embryonic/larval tracheal system

(Swanson et al., 2009)

Detailed Description

Statement

Reference

shg^g119/+ mutants embryos show no defects in development or survival.

(Sarpal et al., 2012)

Homozygous embryos have sporadic tracheal branch breaks.

(Swanson et al., 2009)

shg^g119 mutants exhibit disrupted embryonic head cuticle.

(Fox et al., 2005)

Embryos maternally and zygotically mutant for shg^g119 show widespread cell dissociation during gastrulation, but some cells form epithelial folds.

Cells in epithelial folds and rosettes of embryos maternally and zygotically mutant for shg^g119 are pear-shaped with a constricted and extended apical domain, whereas wild type cells adopt a columnar shape.

(Harris and Peifer, 2004)

Homozygous mutant embryos show defects in head involution - the embryo secretes cuticle without head structures.

(Myster et al., 2003)

Homozygous female germ line clones give rise to egg chambers with misplaced oocytes in 7% of cases.

(Gonzalez-Reyes and St. Johnston, 1998)

Class I allele: lacks portions of the head cuticle and has defects in head involution. Trunk cuticle is intact. Germ line clones give rise to only a few eggs, giving rise to embryos with Class III and class IV phenotypes.

(Tepass et al., 1996)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

p120ctn³⁰⁸, shg[+]/shg^g119 has partially lethal - majority die | recessive phenotype

(Myster et al., 2003)

p120ctn³⁰⁸, shg^g119 has partially lethal - majority die phenotype

(Myster et al., 2003)

Phenotype Manifest In

Enhanced by

Statement

Reference

shg^g119 has embryonic/first instar larval cuticle phenotype, enhanceable by Rho1^rev220

(Fox et al., 2005)

shg^g119 has embryonic ventral epidermis phenotype, enhanceable by Rho1^rev220

(Fox et al., 2005)

shg^g119 has embryonic ventral epidermis phenotype, enhanceable by p120ctn³⁰⁸/p120ctn³⁰⁸

(Myster et al., 2003)

Enhancer of

Statement

Reference

shg[+]/shg^g119 is an enhancer of embryonic/larval cuticle | embryonic stage phenotype of α-Cat¹

(Sarpal et al., 2012)

shg[+]/shg^g119 is an enhancer of phenotype of p120ctn³⁰⁸

(Myster et al., 2003)

NOT Enhancer of

Statement

Reference

shg^g119 is a non-enhancer of presumptive embryonic/larval tracheal system phenotype of conv^R278

(Swanson et al., 2009)

shg^g119 is a non-enhancer of presumptive embryonic/larval tracheal system phenotype of vari^f00033

(Swanson et al., 2009)

Other

Statement

Reference

α-Cat¹, shg[+]/shg^g119 has embryonic/larval cuticle | ventral | embryonic stage phenotype

(Sarpal et al., 2012)

Additional Comments

Genetic Interactions

Statement

Reference

One copy of shg^g119 causes a significant enhancement of the cuticle defects seen in α-Cat¹ mutant embryos. >99% of embryos display a strong head defect and 21% show defects in the ventral cuticle.

(Sarpal et al., 2012)

The tracheal tube length defects caused by vari^f00033 are not enhanced if the embryos are also mutant for shg^g119.

The tracheal tube length defects caused by conv^R278 are not enhanced if the embryos are also mutant for shg^g119.

(Swanson et al., 2009)

Loss of Rho1^rev220 enhances the shg^g119 phenotype. Most double mutants have holes in their ventral epidermis that are not present in most shg^g119 single mutants. As both Rho1^rev220 and shg^g119 affect head involution, the enhancement of this phenotype may simply reflect additive effects. However, because loss of Rho1^rev220 does not affect integrity of the ventral epidermis, enhancement of this aspect of the phenotype is likely to reflect a genetic interaction.

Rho1^rev220 enhances the weak shg^g119 phenotype, leading to more severe embryonic defects. The percentage of phenotypically-wild-type embryos is reduced from approximately 7.6% in shg^g119 embryos to approximately 0.5% in shg^g119 Rho1^rev220 mutants. The majority of shg^g119 Rho1^rev220 mutants (approximately 54%) exhibit ventral holes in the embryonic cuticle, compared to 21.7% in shg^g119 mutants and 0.4% in Rho1^rev220 mutants.

(Fox et al., 2005)

In shg^-/shg⁺ the viability of p120ctn³⁰⁸ homozygotes is reduced to 20-60% of their shg⁺/shg⁺ siblings.

(Myster et al., 2003)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Comments

Weak allele.

(Myster et al., 2003)

Complements: cpa^KG02261.

(Delalle et al., 2005)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

shg^G119

(Swanson et al., 2009, Blankenship et al., 2007, Delalle et al., 2005, Fox et al., 2005, Myster et al., 2003)

shg^g119

(Sarpal et al., 2012, Harris and Peifer, 2004)

Name Synonyms

Secondary FlyBase IDs

References (9)

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