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Keywords: Point mutation
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Journal Articles
Dis Model Mech (2020) 13 (7): dmm045229.
Published: 27 July 2020
... mutation among FRDA patients changes a glycine at position 130 to valine (G130V). Herein, we report generation of the first mouse model harboring an Fxn point mutation. Changing the evolutionarily conserved glycine 127 in mouse Fxn to valine results in a failure-to-thrive phenotype in homozygous animals...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2018) 11 (10): dmm035469.
Published: 18 October 2018
... incompletely model the human disease allele in terms of expression levels or cell-type specificity of the endogenous gene of interest. Most human genetically inherited conditions are caused by alleles carrying single nucleotide changes resulting in altered gene function. Introduction of such point mutations in...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2018) 11 (1): dmm031369.
Published: 29 January 2018
... a point mutation in Dpp10 that caused an amino acid change from valine to aspartic acid in the β-propeller region of the protein. Mice carrying this point mutation were recovered and a congenic line was established ( Dpp10 145D ). Macroscopic examination and lung histology revealed no significant...
Includes: Supplementary data