Mendelian gene identification through mouse embryo viability screening.

doi:10.1186/s13073-022-01118-7

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Article

Mendelian gene identification through mouse embryo viability screening.

Genome medicine - 13 Oct 2022

Cacheiro Pilar, Westerberg Carl Henrik, Mager Jesse, Dickinson Mary E, Nutter Lauryl M J, Muñoz-Fuentes Violeta, Hsu Chih-Wei, Van den Veyver Ignatia B, Flenniken Ann M, McKerlie Colin, Murray Stephen A, Teboul Lydia, Heaney Jason D, Lloyd K C Kent, Lanoue Louise, Braun Robert E, White Jacqueline K, Creighton Amie K, Laurin Valerie, Guo Ruolin, Qu Dawei, Wells Sara, Cleak James, Bunton-Stasyshyn Rosie, Stewart Michelle, Harrisson Jackie, Mason Jeremy, Haseli Mashhadi Hamed, Parkinson Helen, Mallon Ann-Marie, Smedley Damian

Abstract excerpt

BACKGROUND: The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associated with disease is particularly challenging and strategies combining gene functional evidence with approaches that evaluate the phenotypic similarities between patients and model organisms have...

Topics

Animals
Embryo, Mammalian
Female
Genes, Lethal
Homozygote
Humans
Mice
Mice, Knockout

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Pregnancy

Source

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Identifiers

PMID: 36229886
DOI: 10.1186/s13073-022-01118-7
PMCID: PMC9563108

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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