FlyBase Allele Report: Dmel\Hnf4[Δ33]

General Information

Symbol

Dmel\Hnf4^Δ33

Species

D. melanogaster

Name

FlyBase ID

FBal0240651

Feature type

allele

Associated gene

Dmel\Hnf4

Associated Insertion(s)

Carried in Construct

Also Known As

dHNF4^Δ33

Key Links

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

Progenitor genotype

Cytology

Description

Imprecise excision of P{SUPor-P}Hnf4^KG08976 generates a 1939bp deletion of Hnf4 that removes sequences encoding most of the DBD and the entire LBD.

(Palanker et al., 2009)

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 ( 1 )

Disease

Evidence

References

model of maturity-onset diabetes of the young

CEA with Hnf4^Δ17

(Barry and Thummel, 2016)

model of maturity-onset diabetes of the young type 1

CEA with Hnf4^Δ17

(Palanker et al., 2009)

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 number | larval stage (with Hnf4^Δ17)

(Tiwari et al., 2020)

abnormal eclosion (with Hnf4^Δ17)

(Palanker et al., 2009)

abnormal stress response (with Hnf4^Δ17)

(Palanker et al., 2009)

lethal (with Hnf4^Δ17)

(Palanker et al., 2009)

partially lethal - majority die (with Hnf4^Δ17)

(Barry and Thummel, 2016)

short lived (with Hnf4^Δ17)

(Barry and Thummel, 2016)

some die during immature adult stage | recessive (with Hnf4^Δ17)

(Palanker et al., 2009)

suppressor of variegation | dominant, with P{SUPor-P}KV00108

(Swenson et al., 2016)

Phenotype Manifest In

adult midgut region R3 (with Hnf4^Δ17)

(Vonolfen et al., 2024)

adult midgut region R5 (with Hnf4^Δ17)

(Vonolfen et al., 2024)

fat body | adult stage (with Hnf4^Δ17)

(Barry and Thummel, 2016)

lipid droplet | adult stage (with Hnf4^Δ17)

(Vonolfen et al., 2024)

mitochondrion | adult stage (with Hnf4^Δ17)

(Barry and Thummel, 2016)

primary lobe of embryonic/larval lymph gland | larval stage (with Hnf4^Δ17)

(Tiwari et al., 2020)

Detailed Description

Statement

Reference

Hnf4^Δ17/Hnf4^Δ33 larvae exhibit an abundant progenitor pool coupled with the reduction in differentiated cells in the lymph gland primary lobe.

(Tiwari et al., 2020)

Vast majority of Hnf4^Δ17/Hnf4^Δ33 heterozygotes fail to eclose and the rest die as young adults - none survive past post-eclosion day 1 when raised on standard lab diet.

Hnf4^Δ17/Hnf4^Δ33 heterozygotes are hyperglycemic and sugar intolerant: the percentage of animals able to eclose as well as the adult life-span is significantly improved by lowering the levels of dietary sugar (the lower the dietary sugar, the better the eclosion and adult survival rates).

Hnf4^Δ17/Hnf4^Δ33 heterozygote adults show fragmented mitochondria phenotype in the fat body.

(Barry and Thummel, 2016)

Hnf4^Δ33/+ suppresses position effect variegation at the w locus caused by P{SUPor-P}KV00108.

(Swenson et al., 2016)

Hnf4^Δ17/Hnf4^Δ33 transheterozygous mutants maintained under normal culture conditions progress through development until adult eclosion, when many of the animals die with their head protruding from the pupal case. The remaining mutant adults die within a day of eclosion. Maintaining these mutants at low density under ideal culture conditions however, results in many animals surviving this lethal period and developing into morphologically normal adults. This dependence of Hnf4^Δ17/Hnf4^Δ33 mutant lethality on culture conditions suggests that the phenotype arises, at least in part, from metabolic defects due to the nutritional status of the animal. Whereas most control larvae survive for 2 days in the absence of nutrients, almost all Hnf4^Δ17/Hnf4^Δ33 mutants succumb during this period. However, Hnf4^Δ17/Hnf4^Δ33 mutants retain the ability to survive on a sugar diet.

Levels of glycogen and triglycerides do not change significantly in fed Hnf4^Δ17/Hnf4^Δ33 transheterozygotes compared to controls. Starved Hnf4^Δ17/Hnf4^Δ33 mutants however, have significantly higher levels of triglycerides compared to control larvae. Starvation induced autophagy is induced normally in Hnf4^Δ17/Hnf4^Δ33 mutant larvae.

After 1-day of starvation, lipids are effectively cleared from the midgut of control animals and accumulate in the oenocytes. Higher levels of lipids, however, are evident in the midguts of starved Hnf4^Δ17/Hnf4^Δ33 mutants compared to starved controls. Slightly elevated lipid levels are seen in the midguts and oenocytes of fed Hnf4^Δ17/Hnf4^Δ33 mutants relative to fed controls, suggesting that metabolic dysfunction is also present in the fed state. Fed Hnf4^Δ17/Hnf4^Δ33 mutants have essentially normal lipid droplet morphology. These droplets however, appear to aggregate abnormally in starved mutants.

Starved Hnf4^Δ17/Hnf4^Δ33 mutants display reproducibly increased levels of free long chain fatty acids compared to controls.

(Palanker et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Hnf4[+]/Hnf4^Δ33 is a suppressor of partially lethal - majority die phenotype of Pex19^ΔF7

(Bülow et al., 2018)

Hnf4[+]/Hnf4^Δ33 is a suppressor of abnormal size | embryonic stage phenotype of Pex19^ΔF7

(Bülow et al., 2018)

Phenotype Manifest In

Suppressor of

Statement

Reference

Hnf4[+]/Hnf4^Δ33 is a suppressor of mitochondrion | embryonic stage phenotype of Pex19^ΔF7

(Bülow et al., 2018)

Additional Comments

Genetic Interactions

Statement

Reference

The larger, ballon-shaped mitochondria observed in Pex19^ΔF7 maternal-zygotic mutant embryos is suppressed by Hnf4^Δ33 heterozygosity.

(Bülow et al., 2018)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Hnf4^Δ17/Hnf4^Δ33 is rescued by Hnf4^hs.PP

(Palanker et al., 2009)

Hnf4^Δ17/Hnf4^Δ33 is rescued by Scer\GAL4^fat/Hnf4^UAS.cPa

(Palanker et al., 2009)

Comments

Starvation sensitivity of Hnf4^Δ17/Hnf4^Δ33 transheterozygotes can be rescued by heat-inducible Hnf4^hs.Act.

Wild-type lipid droplet morphology is recovered in starved Hnf4^Δ17/Hnf4^Δ33 transheterozygotes that express Hnf4^Scer\UAS.cPa in the fat body under the control of Scer\GAL4^fat.

(Palanker et al., 2009)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

43634

w^*; Hnf4^Δ33/CyO

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

Hnf4^Delta33

(Swenson et al., 2016)

Hnf4^Δ33

(Tiwari et al., 2020, Bülow et al., 2018, Palanker et al., 2009)

dHNF4^Δ33

(Vonolfen et al., 2024, Barry and Thummel, 2016)

hnf4^Δ33

(Kitatani et al., 2020)

Name Synonyms

Secondary FlyBase IDs

References (7)

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