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A de novo deafwaddler mutation of Pmca2 arising in ES cells and hitchhiking with
a targeted modification of the Pparg gene.
Tsai YS, Pendse A, Moy SS, Mohri I, Perez A, Crawley JN, Suzuki K, Maeda N
Nobuyo Maeda on 2/23/2009
Mammalian genome : official journal of the International Mammalian Genome Society
Volume : Pages
17(7) : 716 - 722
We observed severe ataxia in mice homozygous for modification of the Pparg
locus. Genetic analysis and nucleotide sequencing revealed that ataxia is caused
by a T692K substitution in plasma membrane calcium ATPase 2 (Pmca2), which is
tightly linked to Pparg, but not by modified PPARgamma itself. We traced this
mutation and found that it arose spontaneously during clonal expansion of the
targeted embryonic stem (ES) cells. Consistent with the deafwaddler phenotype in
other Pmca2 mutants, homozygous T692K Pmca2 mutants exhibit severe balance
disorder, impaired neurologic reflexes, and motor coordination, and have
profound hearing loss. Heterozygous mutants have normal movement and motor
function but are severely deficient in hearing. Our findings represent a
cautionary example since, although rare, spontaneous mutations do arise in ES
cells during culture and hitchhike onto the targeted gene mutation.
Investigators with authorship
University of North Carolina
Neuropathy & Neurocognition
ATPase, Ca++ transporting, plasma membrane 2
peroxisome proliferator activated receptor gamma
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Please acknowledge all posters, manuscripts or scientific materials that were generated in part or whole using funds from the Diabetic Complications Consortium(DiaComp) using the following text:
Financial support for this work provided by the NIDDK Diabetic Complications Consortium (RRID:SCR_001415, www.diacomp.org), grants DK076169 and DK115255
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