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General Information
Symbol
Dmel\Mmp1Q112stop
Species
D. melanogaster
Name
FlyBase ID
FBal0150759
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
mmp1Q112*, Mmp1Q112
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Nucleotide change:

C24676368T

Amino acid change:

Q112term | Mmp1-PC; Q112term | Mmp1-PD; Q112term | Mmp1-PE; Q112term | Mmp1-PF; Q112term | Mmp1-PG; Q112term | Mmp1-PH; Q112term | Mmp1-PI; Q112term | Mmp1-PJ; Q112term | Mmp1-PK; Q112term | Mmp1-PL

Reported amino acid change:

Q112term

Comment:

The current annotation uses an upstream AUG 29aa upstream relative to previous reports. This accounts for the discrepency in the reported vs. annotated amino acid coordinate of the mutation.

Comment:

Site of nucleic acid difference in mutant inferred by FlyBase based on reported amino acid change.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Amino acid replacement: Q112term.

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 ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Mmp1Q112stop/Mmp1Q112stop mutant embryos exhibit defects in heart formation, with disorganized arrangement of cardioblasts; although cardioblasts do correctly migrate to the midline and do not show a significant decrease in migration velocity, they exhibit a significant decrease in the number of filopodia and lamellipodia at the leading edge. Formation of the lumen is also defective, with the cardioblasts adhering to their contralateral partners with extended cell junctions, and consequently the lumen is reduced in size, as compared to wild type.

75% of Mmp1Q112stop mutant dorsal trachea exhibit gross deformation with an obvious tracheal break.

Mmp12/Mmp1Q112stop mutants display a similar taenidial spacing at the early third instar stage compared to controls but a reduced intertaenidial distance compared to wild type by late third instar.

43% of Mmp1Q112stop mutant third instar larvae display broken tracheal dorsal trunks. None survive to pupariation.

44% of Mmp1Q112stop/Mmp12 transheterozygous mutant third instar larvae display broken tracheal dorsal trunks.

Most Mmp1Q112stop mutants die during early larval stages. Mutants that do develop to pupae show normal development of the imaginal discs, trachea, and dorsal air sac primordium.

Heterozygous leg discs which are cut and then cultured in vivo for 48 hours form a blastema, as occurs in wild-type discs, but cell division still occurs in non-blastema cells.

ISNb pathfinding in Mmp1Q112stop homozygous embryos is roughly wild type, though 50% of hemisegments display a loosely fasciculated ISNb morphology. SNa fasciculation is also decreased.

ISNb pathfinding in Mmp1Q112stop/Mmp12 embryos is roughly wild type, though 28% of hemisegments display a loosely fasciculated ISNb morphology. SNa fasciculation is also decreased.

Some Mmp1Q112stop mutants die during the second larval instar (about 30%), the rest die during the third larval instar, which lasts several days longer than in wild-type. Most Mmp1Q112stop/Mmp12 animals survive to third instar (84%), but only 7% pupariate. All 7% undergo head eversion, but none eclose. The tracheal system phenotypes of Mmp1Q112stop/Mmp12 larvae get more severe with age: 1. First instar: in small first instars larval trachea do not have quite as much slack as those of controls. This defect is more apparent in larger first instar larvae, where the tracheal system is visibly stretched and has no slack, especially along the transverse connectives. 20% (n = 25) of have breaks in their dorsal trunks, presumably caused by overstretching. 2. Second instar: shortened dorsal trunks; the posterior spiracles have moved inward; 44% (n = 62) have visible breaks in the dorsal trunks. 3. Third instar: The tracheal system is stretched dramatically toward the anterior of the animal, with prominent tracheal breaks in 42% (n = 52) and posterior spiracles separated from the surface of the cuticle in all. Mmp1Q112stop/Mmp12 larvae are variable in size, but are always small than their wild-type siblings.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Suppressed by
NOT suppressed by
Statement
Reference
Enhancer of
NOT Enhancer of
Suppressor of
NOT Suppressor of
Phenotype Manifest In
Enhanced by
Suppressed by
Statement
Reference
NOT suppressed by
Statement
Reference
Enhancer of
NOT Enhancer of
Suppressor of
NOT Suppressor of
Additional Comments
Genetic Interactions
Statement
Reference

The heart developmental defects observed in Mmp1Q112stop/Mmp1Q112stop, Mmp2W307stop/Mmp2W307stop double mutants are similar to those seen in Mmp2W307stop/Mmp2W307stop single mutants.

Homozygous Fmr1Δ50M fully suppresses the tracheal defects seen in Mmp1Q112stop mutant flies.

Homozygous Mmp1Q112stop partially suppresses the NMJ defects seen in Fmr1Δ50M mutant third instar larvae. Synaptic bouton number is strongly rescued and increased number of synaptic branches is suppressed.

Mmp1Q112stop,Mmp2W307stop double mutant embryos show normal haemocyte migration into the tail region of the embryo.

The formation of a regeneration blastema that is seen in the proximodistal portion of the leg disc after induction of wgAct5C.PS expression in the early third larval instar still occurs at the normal time if the animals are also carrying Mmp1Q112stop/+. However, the non-blastema cells (ventral leg cells) do not undergo cell-cycle arrest in the wing disc carrying Mmp1Q112stop/+, in contrast to non-blastema cells in animals in which wgAct5C.PS expression has been induced in an otherwise wild-type background.

The frequency of adults that show transdetermination (wing structures in the adult legs) after induction of wgAct5C.PS 72 hours after egg deposition is increased to 42% if the animals are also carrying Mmp1Q112stop/+.

ISNb axon guidance defects in Mmp2W307stop Mmp1Q112stop or Mmp2W307stop/Df(2R)Uba1-Mmp2 Mmp1Q112stop/Mmp12 double mutants qualitatively and quantitatively mirror the phenotypes observed in the Mmp2 single mutants.

SNa axon defasciculation in Mmp2W307stop Mmp1Q112stop or Mmp2W307stop/Df(2R)Uba1-Mmp2 Mmp1Q112stop/Mmp12 double mutants is significantly increased relative to that of either single mutant.

The larval lethality due to Mmp1Q112stop/Mmp12 is enhanced by Mmp2218/Mmp2W307stop from 84% survival to 3rd instar and 7% pupariating to 54% survival to 3rd instar and 4% pupariating. The larval lethality of Mmp1Q112stop; Mmp2W307stop double homozygotes (73% survive to 2nd instar, 35% to 3rd instar, and none pupariate) is greater than for either single homozygote.

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 (7)
References (13)