Chromosome 1 Sequence Analysis of C57BL/6J-Chr1^KM Mouse Strain

Table 2

List of human disease-associated genes with loss of function variants in B6-Chr1^KM Chr 1.

Gene	Ensembl ID	Variant type	Phenotype	OMIM ID
Col4a3	ENSMUSG00000079465	Frameshift	Alport syndrome, autosomal dominant	104200
			Alport syndrome, autosomal recessive	203780
			Hematuria, benign familial; BFH	141200
Fn1	ENSMUSG00000026193	Frameshift	Glomerulopathy with fibronectin deposits 2; GFND2	601894
			Plasma fibronectin deficiency	614101
Pde6d	ENSMUSG00000026239	Splice donor	Joubert syndrome 22; JBTS22	615665
Hmcn1	ENSMUSG00000066842	Frameshift	Macular degeneration, age-related, 1; ARMD1	603075
Cd244	ENSMUSG00000004709	Stop gain; splice donor	Rheumatoid arthritis; RA	180300
Rab3gap2	ENSMUSG00000039318	Splice acceptor, missense	Martsolf syndrome	212720
			Warburg micro syndrome 2; WARBM2	614225
Lamb3	ENSMUSG00000026639	Splice acceptor	Amelogenesis imperfecta, type IA; AI1A	104530
			Epidermolysis bullosa, junctional, Herlitz type	226700
			Epidermolysis bullosa, junctional, non-Herlitz type	226650
Dst	ENSMUSG00000026131	Missense	Epidermolysis bullosa simplex, autosomal recessive 2; EBSB2	615425
			Neuropathy, hereditary sensory and autonomic, type VI; HSAN6	614653
Ercc5	ENSMUSG00000026048	Missense	Xeroderma pigmentosum, complementation group G; XPG	278780
Casp8	ENSMUSG00000026029	Missense	CASPase 8 deficiency	607271
			Dermatitis, atopic	603165
Tmem237	ENSMUSG00000038079	Missense	Joubert syndrome 1; JBTS1	213300
			Joubert syndrome 14; JBTS14	614424
Bard1	ENSMUSG00000026196	Missense	Breast cancer	114480
Bcs1l	ENSMUSG00000026172	Missense	Bjornstad syndrome; BJS	262000
			Gracile syndrome	603358
			Leigh syndrome; LS	256000
			Mitochondrial complex III deficiency, nuclear type 1; MC3DN1	124000
Obsl1	ENSMUSG00000026211	Missense	Three M syndrome 2; 3 M2	612921
Tm4sf20	ENSMUSG00000026149	Missense	Specific language impairment 5; SLI5	615432
Dis3l2	ENSMUSG00000053333	Missense	Perlman syndrome; PRLMNS	267000
Chrng	ENSMUSG00000026253	Missense	Multiple pterygium syndrome, Escobar variant; EVMPS	265000
			Multiple pterygium syndrome, lethal type; LMPS	253290
Ugt1a1	ENSMUSG00000089960	Missense	Crigler-Najjar syndrome, type I	218800
			Crigler-Najjar syndrome, type II	606785
			Gilbert syndrome	143500
			Hyperbilirubinemia, transient familial neonatal; HBLRTFN	237900
Steap3	ENSMUSG00000026389	Missense	Anemia, hypochromic microcytic, with iron overload 2; AHMIO2	615234
Ube2t	ENSMUSG00000026429	Missense	Fanconi anemia, complementation group T; FANCT	616435
Ppox	ENSMUSG00000062729	Missense	Porphyria variegata	176200
Ackr1	ENSMUSG00000037872	Missense	Malaria, susceptibility to	611162
Spta1	ENSMUSG00000026532	Missense	Elliptocytosis 2; EL2	130600
			Pyropoikilocytosis, hereditary; HPP	266140
			Spherocytosis, type 3; SPH3	270970
Ephx1	ENSMUSG00000038776	Missense	Epoxide hydrolase 1, microsomal; EPHX1	132810
			Hypercholanemia, familial; FHCA	607748
			Preeclampsia/eclampsia 1; PEE1	189800
Rd3	ENSMUSG00000049353	Missense	Leber congenital amaurosis 12; LCA12	610612
Cd46	ENSMUSG00000016493	Missense	Hemolytic uremic syndrome, atypical, susceptibility to, 2; AHUS2	612922
Cr2	ENSMUSG00000026616	Missense	Immunodeficiency, common variable, 2; CVID2	240500
			Immunodeficiency, common variable, 7; CVID7	614699
			Systemic lupus erythematosus, susceptibility to, 9; SLEB9	610927

OMIM: online Mendelian inheritance in man. Numbers in italic in OMIM ID column indicate that these diseases have mouse models. Human disease-related phenotypes come from “Human-Mouse: Disease Connection” database (http://www.informatics.jax.org/humanDisease.shtml) in Mouse Genome Informatics website.