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Table 3 Most probable candidate genes affecting viability in mouse knockout models and associated with mammalian autosomal recessive disorders

From: Identification of homozygous haplotypes carrying putative recessive lethal mutations that compromise fertility traits in French Lacaune dairy sheep

Haplotype Gene namea Gene description Mammalian recessive disorderb
LDHH1 MAGI2 Membrane associated guanylate kinase, WW and PDZ domain containing 2 Nephrotic syndrome
PMPCB Peptidase, mitochondrial processing beta subunit Multiple mitochondrial dysfunctions syndrome
RELN†* Reelin Lissencephaly and cerebellar hypoplasia
LDHH2 IDI1 Isopentenyl-diphosphate delta isomerase 1 Zellweger syndrome and neonatal adrenoleukodystrophy
PRNP Major prion protein Spongiform encephalopathy
PCNA* Proliferating cell nuclear antigen Ataxia-telangiectasia-like disorder
FERMT1 Fermitin family member 1 Kindler syndrome
LDHH3 POMC* Proopiomelanocortin Obesity, adrenal insufficiency
HADHA, HADHB Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha/beta Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, trifunctional protein deficiency with myopathy and neuropathy
CAD Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase Abortion; epileptic encephalopathy, early infantile
EIF2B4 Eukaryotic translation initiation factor 2B subunit delta Leukoencephalopathy, ovarioleukodystrophy
IFT172 Intraflagellar transport 172 Retinitis pigmentosa, short-rib thoracic dysplasia ± polydactyly
LDHH4–5 HOXC13* Homeobox C13 Ectodermal dysplasia
KRT8* Keratin 8 Cryptogenic cirrhosis
SCN8A* Sodium voltage-gated channel alpha subunit 8 Spinocerebellar ataxia
LDHH6 WNT1* Wnt family member 1 Osteogenesis imperfecta, type XV
CCDC65* Coiled-coil domain containing 65 Primary ciliary dyskinesia
PFKM* Phosphofructokinase, muscle Glycogen storage disease VII
LDHH7 TLL1* Tolloid like 1 Heart malformation
LDHH8-9–10 FAH Fumarylacetoacetate hydrolase Tyrosinemia
ARNT2* Aryl hydrocarbon receptor nuclear translocator 2 Webb-Dattani syndrome
MPI Mannose phosphate isomerase Congenital disorder of glycosylation, type Ib
CYP1A2* Cytochrome P450 family 1 subfamily A member 2 Metabolizer of a cognitive enhancer
STRA6 Stimulated by retinoic acid 6 Microphthalmia
LDHH11 CRADD CASP2 and RIPK1 domain containing adaptor with death domain Mental retardation, with variant lissencephaly
CEP83 Centrosomal protein 83 Nephronophthisis
  1. aHomozygous lethal (complete penetrance) and homozygous sub-viable* (incomplete penetrance) genes affecting developmental stages reported in knockout databases (IMPC and/or MGI)
  2. bMammalian autosomal recessive disorders reported in OMIM and/or OMIA databases