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

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