Nonsense mutation leading to premature truncation of Mmp1 in the flexible hinge domain so that the predicted protein lacks the entire hemopexin domain.
Amino acid replacement: Q273term.
C24675815T
Q273term | Mmp1-PC; Q273term | Mmp1-PD; Q273term | Mmp1-PE; Q273term | Mmp1-PF; Q273term | Mmp1-PG; Q273term | Mmp1-PH; Q273term | Mmp1-PI; Q273term | Mmp1-PJ; Q273term | Mmp1-PK; Q273term | Mmp1-PL
Q273term
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.
Site of nucleic acid difference in mutant inferred by FlyBase based on reported amino acid change.
decreased rate of movement | larval stage (with Mmp1W439stop), with Mmp1E225A.f1.UAS
lethal | pupal stage (with Mmp12)
head | pupal stage (with Mmp1W439stop)
head | pupal stage (with Mmp1W439stop), with Mmp1E225A.f1.UAS, Scer\GAL4αTub84B.PL
head | pupal stage (with Mmp1W439stop), with Mmp1Pro-pex.f1.UAS, Scer\GAL4αTub84B.PL
wing | pupal stage (with Mmp1W439stop)
wing | pupal stage (with Mmp1W439stop), with Mmp1E225A.f1.UAS, Scer\GAL4αTub84B.PL
wing | pupal stage (with Mmp1W439stop), with Mmp1Pro-pex.f1.UAS, Scer\GAL4αTub84B.PL
Mmp1Q273stop heterozygous mutants do not exhibit a delay in fat body cell dissociation during metamorphogenesis.
The intertaenidial distance in Mmp1Q273stop late third instar larvae increases slightly from the beginning of the instar, but does not elongate fully compared to wild type, indicating that the hemopexin domain of Mmp1, missing in these mutants, is not necessary for taenidial expansion.
6% of Mmp1Q273stop third instar larvae display broken tracheal dorsal trunks. 59% survive to pupariation. Dissected pupae show defects in head eversion.
6% of Mmp1Q273stop/Mmp1W439stop transheterozygous mutant third instar larvae display broken tracheal dorsal trunks. 78% survive to pupariation. A small number of dissected pupae show defects in head eversion.
Very few Mmp1Q273stop/Mmp1W439stop transheterozygous mutant third instar larvae expressing Mmp1Pro-pex.f1.Scer\UAS under the control of Scer\GAL4αTub84B.PL display broken tracheal dorsal trunks. The majority of dissected pupae show defects in head eversion, and some animals show additional defects in wing eversion.
Expression of Mmp1E225A.f1.Scer\UAS under the control of Scer\GAL4αTub84B.PL strongly enhances the phenotype of Mmp1Q273stop/Mmp1W439stop transheterozygous mutant third instar larvae. 15% display broken tracheal dorsal trunks and appear sluggish, and the majority of dissected pupae show defects in wing and head eversion. These phenotypes are stronger than either Mmp1Q273stop/Mmp1W439stop or Scer\GAL4αTub84B.PL driving Mmp1E225A.f1.Scer\UAS alone.
Mmp1Q273stop mutants exhibit abundant C4da neuron larval dendrites after head eversion, with approximately 3% retained after head eversion. Whereas in wild-type pupae at 20hrs after pupal formation all larval dendrites from C4da neurons are cleared from the extracellular space, in Mmp1Q273stop mutants, larval dendrites that are severed from the soma remain. These larval dendrites persist to much later stages at 50 hours after pupal formation, just before the lethal phase of Mmp1Q273stop at midpupariation.
94% of Mmp1Q273stop mutant animals survive to 3rd instar, and 61% pupariate, but only 32% undergo head eversion, 26% form visible head bristles, and none eclose. Of the Mmp1Q273stop mutant pupae that do not evert their heads, a small proportion (3/17) continue to develop adult body structures, including bristles, articulated legs, and abdominal cuticle stripes, appearing upon dissection from the pupal case as headless flies, often with cleft nota Dissection of the body cavities of these pharate adults reveals developing heads trapped inside. 87% of Mmp1Q273stop/Mmp12 animals survive to third instar, but only 22% pupariate, 6% undergo head eversion, and none eclose.
Mmp1Q273stop, Mmp2A218V has abnormal developmental rate phenotype
Mmp1Q273stop, Mmp2W307stop has abnormal neuroanatomy | pupal stage phenotype
Mmp1Q273stop, Mmp2A218V has fat body phenotype
Mmp1Q273stop, Mmp2W307stop has dendritic arborizing neuron | P-stage phenotype
A moderate delay in fat body cell dissociation during metamorphosis is seen in Mmp1Q273stop Mmp2A218V double heterozygotes.
Mmp1Q273stop Mmp2W307stop double mutant C4da clones not only exhibit dendritic branching patterns similar to wild-type clones during early pupariation, but also exhibit complete larval dendrite removal after head eversion at 20 hours after pupal formation as in wild-type controls.