FB2024_03 , released June 25, 2024
Allele: Dmel\Hand173
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General Information
Symbol
Dmel\Hand173
Species
D. melanogaster
Name
FlyBase ID
FBal0264704
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Nature of the Allele
Progenitor genotype
Associated Insertion(s)
Cytology
Description

Imprecise excision of the progenitor insertion, resulting in a 1.2kb deletion that removes the first three exons of Hand.

Allele components
Component
Use(s)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Inserted_sequence:

AATAACTTACAATAAAGTAGTAC

Comment:

The 1.2kb annotated region is deleted and replaced by 23bp in Hand173 allele.

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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
Phenotype Manifest In
Detailed Description
Statement
Reference

The morphology of the dorsal vessel appears normal in homozygous embryos and the visceral musculature does not appear to be grossly altered in homozygous embryos and larvae. However, the lymph gland is either absent or reduced in a large proportion of the mutant embryos.

Homozygous, Hand173/Handko and Hand173/Df(2L)J1 adults suffer a high rate of premature mortality.

The dorsal vessels of homozygous adults are clearly disorganised, with the myofibrils bent around the cortex of each cardioblast outside of the nucleus. Both the diastolic and systolic widths of the Hand173/Df(2L)J1 adult dorsal vessel are significantly reduced compared to controls, as is the ratio of these widths (this will result in a large decrease in the stroke volume of the mutant hearts). The heartbeat rates of the mutant adults are similar to those of controls, however, while the heartbeat contractions still propagate anteriorly, they appear to originate anywhere along the length of the heart, in contrast to normal hearts where they initiate in the posterior.

Homozygous adults have severe defects in the digestive tract, particularly in the midgut; the most common defects are a pronounced bulging and occasional rupturing of the anterior midgut immediately posterior of the proventriculus, coupled with a shortening of the length of the midgut by approximately 25-50%, a variable narrowing of the mid- and posterior midgut and a distended crop. Defects in the circular and longitudinal visceral musculature are seen in those regions of the gut with abnormal morphology. In the most severely affected mutant adults, extremely long loops of a single continuous peritrophic membrane tubule are seen external to the gut, packed into the abdominal cavity.

External Data
Interactions
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Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments
Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (1)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (2)