UASt regulatory sequences drive expression of a mutated Hrb98DE LD38464 cDNA (contains the amino acid replacement D302V, which is associated with disease in the human ortholog Hsap\HNRNPA2B1) which is tagged with Tag:FLAG.
A28603211T
D305V | Hrb98DE-PA; D306V | Hrb98DE-PB; D306V | Hrb98DE-PC; D302V | Hrb98DE-PD; D301V | Hrb98DE-PE; D302V | Hrb98DE-PF
D302V
Analogous mutation in human HNRNPA2B1 implicated in inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2; mutation carried on in vitro construct; site of nucleotide substitution in fly gene and specific disease association inferred by FlyBase curator.
Analogous mutation in two paralogous human genes (HNRNPA2B1 and HNRNPA1) implicated in sub-types of IBMPFD.
Expression of Hrb98DED302V.Scer\UAS.T:Zzzz\FLAG driven by Scer\GAL4Mhc.PW leads to abnormal wing postures (up or down compared to wild type) and age-related accumulation of cytoplasmic aggregates in indirect flight muscle. Expression in the eye driven by Scer\GAL4GMR.PU does not lead to abnormal eye phenotypes. Expression driven by Scer\GAL4VGlut-OK371 does not significantly affect locomotion in third instar larvae or lead to cytoplasmic aggregates in indirect flight muscle, but results in late pupal lethality (almost 100% of flies die when trying to leave the pupal case).
Hrb98DED302V.UAS.Tag:FLAG, Scer\GAL4Mhc.PW has visible phenotype, suppressible | partially by mrjUAS.WT.Tag:FLAG, Scer\GAL4Mhc.PW
Hrb98DED302V.UAS.Tag:FLAG, Scer\GAL4Mhc.PW has indirect flight muscle cell phenotype, enhanceable by Df(2R)BSC434/+
Hrb98DED302V.UAS.Tag:FLAG, Scer\GAL4Mhc.PW has indirect flight muscle cell phenotype, suppressible by mrjUAS.WT.Tag:FLAG, Scer\GAL4Mhc.PW
Hrb98DED302V.UAS.Tag:FLAG, Scer\GAL4Mhc.PW has wing phenotype, suppressible | partially by mrjUAS.WT.Tag:FLAG, Scer\GAL4Mhc.PW
Co-expression of mrjScer\UAS.WT.T:Zzzz\FLAG significantly suppresses (and presence of Df(2R)BSC434 significantly enhances) cytoplasmic aggregation in indirect flight muscle seen in flies with expression of Hrb98DED302V.Scer\UAS.T:Zzzz\FLAG driven by Scer\GAL4Mhc.PW; co-expression of mrjScer\UAS.WT.T:Zzzz\FLAG also partially suppresses abnormal wing posture in Scer\GAL4Mhc.PW>Hrb98DED302V.Scer\UAS.T:Zzzz\FLAG flies.