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Colley, N. (2016.6.20). Colley retinal degeneration mutations. 
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FBrf0232679
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Personal communication to FlyBase
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The following information accompanied stocks donated to the Bloomington Stock Center by Nansi Colley, University of Wisconsin at Madison.
PAPLA12-1397 is an EMS mutation from the Zuker collection (FBrf0179036) originally identified as line 2-1397 that causes endoplasmic reticulum accumulation and severe, age-related retinal degeneration. It fails to complement Df(2L)TE29Aa-11, Df(2L)Exel7034, PAPLA1c03991, PAPLA1KG03914 and PAPLA1f04269. Sequences are deleted within the PAPLA1 coding region that result in loss of approximately 200 amino acids within the proline-rich domain (within amino acids 190 to 1169).
rdgH2-4388 is an EMS mutation from the Zuker collection (FBrf0179036) originally identified as line 2-4388 that causes age-related retinal degeneration with severe reduction in rhabdomeres at two weeks. Rh1 is severely reduced at one day after eclosion. The mutation failed to complement Df(2L)ED761, Df(2L)ED775, Df(2L)esc-P3-0, Df(2L)prd1.7, Df(2L)BSC891, Df(2L)BSC826 and Df(2L)Prl, but complemented Df(2L)BSC243, Df(2L)Exel6031, Df(2L)BSC407, Df(2L)Exel6033, Df(2L)ED776, Df(2L)Exel6030 and Rab6D23D. Flies carrying rdgH2-4388 and a non-complementing deletion had brick-red eyes. These complementation tests place rdgH2-4388 in the CG14947 to ThrRS gene interval in 33C2-4. rdgH2-4388 is likely a loss-of-function allele of Patsas, since sequencing of the Patsas gene (including 1.5 kb upstream and downstream of the transcribed region) revealed a C to T point mutation which leads to a P393S amino acid substitution. Other genes in the region were not sequenced. Both the rdgH2-4388 and Patsas2-4388 allele symbols will be used in the Bloomington genotype until the retinal degeneration phenotype is formally associated with the amino acid change and the FlyBase gene and allele entries are merged.
rdgI2-4316 is an EMS mutation from the Zuker collection (FBrf0179036) originally identified as line 2-4316 with severely reduced Rh1 and retinal degeneration at 1-2 days after eclosion and small, cone-like rhabdomeres. It fails to complement Df(2L)H20, but complements Df(2L)BSC148 and ninaD263.
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    English
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