Allele Hsap\HTT^{128Q.FL.Scer\UAS}

General Information
Symbol	Hsap\HTT^{128Q.FL.Scer\UAS}	Species	H. sapiens
Name		FlyBase ID	FBal0249417
Feature type	allele	Associated gene	Hsap\HTT

Allele class
Mutagen	in vitro construct - regulatory fusion
Recent Updates
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FB2013_03
FB2013_02
All updates	Click here to see a list of all updates to this record from FB2010_08 and on.
Nature of the Allele
Allele class
Mutagen	in vitro construct - regulatory fusion (Romero et al., 2008)
Mutations Mapped to the Genome

Type Location Additional Notes References
Associated Sequence Data
DDBJ / EMBL / GenBank	DNA sequence Protein sequence Name

UniProtKB/Swiss-Prot
UniProtKB/TrEMBL

Progenitor genotype
Nature of the lesion	Statement Reference Scer\UAS drives expression of the entire 3144 amino acid Hsap\HD protein with a pathogenic polyQ tract of 128 amino acids. (Romero et al., 2008)
Carried in construct	P{UAS-HTT.128Q.FL} (Romero et al., 2008)
Cytology
Phenotypic Data
Phenotypic Class
	eye color defective, with Scer\GAL4^GMR.PF (Romero et al., 2008) flight defective \| conditional, with Scer\GAL4^C164 (Romero et al., 2008) locomotor behavior defective \| conditional, with Scer\GAL4^C164 (Romero et al., 2008) neurophysiology defective, with Scer\GAL4^elav-C155 (Romero et al., 2008) short lived, with Scer\GAL4^C164 (Romero et al., 2008)
Phenotype Manifest In
	adult neuromuscular junction \| conditional, with Scer\GAL4^C164 (Romero et al., 2008) indirect flight muscle motor neuron \| conditional, with Scer\GAL4^C164 (Romero et al., 2008) ommatidium \| adult stage, with Scer\GAL4^GMR.PF (Romero et al., 2008) rhabdomere of eye photoreceptor cell \| adult stage \| conditional, with Scer\GAL4^GMR.PF (Romero et al., 2008)
Detailed Description
	Statement Reference Expression of Hsap\HD[128Q.FL.Scer\UAS] using the strong Scer\GAL4[GMR.PF] driver results in depigmentation and disorganization of ommatidia. Expression of Hsap\HD[128Q.FL.Scer\UAS] using a weaker Scer\GAL4[GMR.PF] driver does not disrupt rhabdomere organization in 1 day old flies. However, significantly fewer rhabdomeres per ommatidium are found in flies aged for 20 days, showing that this eye phenotype is progressive. Flies expressing Hsap\HD[128Q.FL.Scer\UAS] using Scer\GAL4[C164] show reduced survival in adult life compared to controls. Flies expressing Hsap\HD[128Q.FL.Scer\UAS] using Scer\GAL4[C164] show impaired motor performance as a function of age compared to controls, as measured by climbing and flying assays. Aged flies expressing Hsap\HD[128Q.FL.Scer\UAS] using Scer\GAL4[C164] show a neurodegenerative phenotype: motor neurons innervating the indirect flight muscles and neuromuscular junctions are lost. Abnormalities in bouton number, branching or morphology are not observed in Hsap\HD[128Q.FL.Scer\UAS], Scer\GAL4[elav-C155] larvae. Excitatory junction potentials (EJPs) at neuromuscular junctions of third instar larvae expressing Hsap\HD[128Q.FL.Scer\UAS] using Scer\GAL4[elav-C155] are similar to controls at 1.2 mM extracellular Ca[2+], but are increased about 5-fold at 0.25 mM Ca[2+], and by ~30% at 0.6 mM Ca[2+]. Spontaneous fusion events at neuromuscular junctions in the absence of stimulation (mEJPs) in Hsap\HD[128Q.FL.Scer\UAS], Scer\GAL4[elav-C155] animals are similar in frequency and amplitude to controls. The number of failures (non-events) when motor nerves are stimulated 2-3 times above threshold in 0.25 mM Ca[2+] in Hsap\HD[128Q.FL.Scer\UAS], Scer\GAL4[elav-C155] animals are very low - neurotransmitter is reliably released upon stimulation. This contrasts with controls which fail to release 20-25% of the time. Resting synaptic Ca[2+] levels at presynaptic terminals are elevated by ~2-fold in Hsap\HD[128Q.FL.Scer\UAS], Scer\GAL4[elav-C155] larvae. In addition, Ca[2+] levels are more variable in these larvae compared to controls, with a bimodal distribution indicative of bouton populations with both normal and aberrant Ca[2+] levels. (Romero et al., 2008)
External Data
Linkouts
Interactions
	Show the genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
Statement Reference Hsap\HTT^{128Q.FL.Scer\UAS}, Scer\GAL4^C164 has locomotor behavior defective \| conditional phenotype, suppressible by Syx1A^Δ229/Syx1A[+] (Romero et al., 2008) Hsap\HTT^{128Q.FL.Scer\UAS}, Scer\GAL4^elav-C155 has neurophysiology defective phenotype, suppressible \| partially by Vha100-1¹/Vha100-1[+] (Romero et al., 2008) Hsap\HTT^{128Q.FL.Scer\UAS}, Scer\GAL4^elav-C155 has neurophysiology defective phenotype, suppressible by cac^HC129/cac[+] (Romero et al., 2008) Hsap\HTT^{128Q.FL.Scer\UAS}, Scer\GAL4^elav-C155 has neurophysiology defective phenotype, suppressible by Ca-α1D^X10/Ca-alpha1D[+] (Romero et al., 2008) Hsap\HTT^{128Q.FL.Scer\UAS}, Scer\GAL4^elav-C155 has neurophysiology defective phenotype, suppressible by Rop^G27/Rop[+] (Romero et al., 2008) Hsap\HTT^{128Q.FL.Scer\UAS}, Scer\GAL4^elav-C155 has neurophysiology defective phenotype, suppressible by Snap[+]/Snap^M4 (Romero et al., 2008) Hsap\HTT^{128Q.FL.Scer\UAS}, Scer\GAL4^elav-C155 has neurophysiology defective phenotype, suppressible by Syx1A^Δ229/Syx1A[+] (Romero et al., 2008)
Phenotype Manifest In
Suppressed by
Statement Reference Hsap\HTT^{128Q.FL.Scer\UAS}, Scer\GAL4^GMR.PF has ommatidium \| adult stage phenotype, suppressible by Syx1A^Δ229/Syx1A[+] (Romero et al., 2008) Hsap\HTT^{128Q.FL.Scer\UAS}, Scer\GAL4^GMR.PF has rhabdomere of eye photoreceptor cell \| conditional \| adult stage phenotype, suppressible by Ca-α1D^X10/Ca-alpha1D[+] (Romero et al., 2008) Hsap\HTT^{128Q.FL.Scer\UAS}, Scer\GAL4^GMR.PF has rhabdomere of eye photoreceptor cell \| conditional \| adult stage phenotype, suppressible by Rop^G27/Rop[+] (Romero et al., 2008) Hsap\HTT^{128Q.FL.Scer\UAS}, Scer\GAL4^GMR.PF has rhabdomere of eye photoreceptor cell \| conditional \| adult stage phenotype, suppressible by Snap[+]/Snap^M4 (Romero et al., 2008) Hsap\HTT^{128Q.FL.Scer\UAS}, Scer\GAL4^GMR.PF has rhabdomere of eye photoreceptor cell \| conditional \| adult stage phenotype, suppressible by Syx1A^Δ229/Syx1A[+] (Romero et al., 2008)
NOT suppressed by
Statement Reference Hsap\HTT^{128Q.FL.Scer\UAS}, Scer\GAL4^GMR.PF has rhabdomere of eye photoreceptor cell \| conditional \| adult stage phenotype, non-suppressible by Vha100-1¹/Vha100-1[+] (Romero et al., 2008)
Additional Comments
Genetic Interactions
Statement Reference
Xenogenetic Interactions
Statement Reference Snap[M4]/+, Rop[G27]/+ or Syx1A[Δ229]/+ fully suppresses the increased excitatory junction potential (EJP) amplitude and decreased failure rate seen in Hsap\HD[128Q.FL.Scer\UAS], Scer\GAL4[elav-C155] animals at 0.25 mM Ca[2+]. Vha100-1[1]/+ does not fully suppress the increased EJP amplitude seen in Hsap\HD[128Q.FL.Scer\UAS], Scer\GAL4[elav-C155] animals, and fails to suppress the increased release probability at 0.25 mM Ca[2+]. Snap[M4]/+, Rop[G27]/+ or Syx1A[Δ229]/+ suppresses the reduced number of rhabdomeres per ommatidium phenotype seen in Hsap\HD[128Q.FL.Scer\UAS], Scer\GAL4[GMR.PF] animals at 20 days. Vha100-1[1]/+ does not suppress this phenotype. Syx1A[Δ229]/+ suppresses the external eye phenotype seen in Hsap\HD[128Q.FL.Scer\UAS], Scer\GAL4[GMR.PF] animals. Syx1A[Δ229]/+ suppresses the impaired motor performance, as measured by a climbing assay, of Hsap\HD[128Q.FL.Scer\UAS], Scer\GAL4[C164] animals. Syx1A[Δ229]/+ reverses the increase in resting synaptic Ca[2+] levels at presynaptic terminals seen in Hsap\HD[128Q.FL.Scer\UAS], Scer\GAL4[elav-C155] larvae. Ca-α1D[X10]/+ reverses the increase in resting synaptic Ca[2+] levels at presynaptic terminals seen in Hsap\HD[128Q.FL.Scer\UAS], Scer\GAL4[elav-C155] larvae. Ca-α1D[X10]/+ or cac[HC129]/+ significantly suppresses the increased excitatory junction potential (EJP) amplitude and decreased failure rate seen in Hsap\HD[128Q.FL.Scer\UAS], Scer\GAL4[elav-C155] animals at 0.25 mM Ca[2+]. Ca-α1D[X10]/+ suppresses the reduced number of rhabdomeres per ommatidium phenotype seen in Hsap\HD[128Q.FL.Scer\UAS], Scer\GAL4[GMR.PF] animals at 20 days. (Romero et al., 2008)
Complementation & Rescue Data
Comments
Stocks ( 2 )
Bloomington	33808 w¹¹¹⁸; P{UAS-HTT.128Q.FL}f27b 33809 P{ActGFP}38, w¹¹¹⁸; C(1)DX, P{hs-hid}18A, y¹ w¹ f¹; P{UAS-HTT.128Q.FL}f27b
Notes on Origin
Discoverer

External Crossreferences & Linkouts
Other Crossreferences

Linkouts

Synonyms & Secondary IDs ( 2 )
Reported As
Symbol Synonym	Hsap\HD^{128Q.FL.Scer\UAS} Hsap\HTT^{128Q.FL.Scer\UAS}
Name Synonym
Secondary FlyBase IDs

References ( 1 )
Research paper	Romero et al., 2008, Neuron 57(1): 27--40 Suppression of neurodegeneration and increased neurotransmission caused by expanded full-length huntingtin accumulating in the cytoplasm. [FBrf0202771]

Allele Hsap\HTT128Q.FL.Scer\UAS

Allele Hsap\HTT^{128Q.FL.Scer\UAS}