International Journal of Genomics / 2017 / Article / Tab 2

Research Article

Chromosome 1 Sequence Analysis of C57BL/6J-Chr1KM Mouse Strain

Table 2

List of human disease-associated genes with loss of function variants in B6-Chr1KM Chr 1.

GeneEnsembl IDVariant typePhenotypeOMIM ID

Col4a3ENSMUSG00000079465FrameshiftAlport syndrome, autosomal dominant104200
Alport syndrome, autosomal recessive203780
Hematuria, benign familial; BFH141200
Fn1ENSMUSG00000026193FrameshiftGlomerulopathy with fibronectin deposits 2; GFND2601894
Plasma fibronectin deficiency614101
Pde6dENSMUSG00000026239Splice donorJoubert syndrome 22; JBTS22615665
Hmcn1ENSMUSG00000066842FrameshiftMacular degeneration, age-related, 1; ARMD1603075
Cd244ENSMUSG00000004709Stop gain; splice donorRheumatoid arthritis; RA180300
Rab3gap2ENSMUSG00000039318Splice acceptor, missenseMartsolf syndrome212720
Warburg micro syndrome 2; WARBM2614225
Lamb3ENSMUSG00000026639Splice acceptorAmelogenesis imperfecta, type IA; AI1A104530
Epidermolysis bullosa, junctional, Herlitz type226700
Epidermolysis bullosa, junctional, non-Herlitz type226650
DstENSMUSG00000026131MissenseEpidermolysis bullosa simplex, autosomal recessive 2; EBSB2615425
Neuropathy, hereditary sensory and autonomic, type VI; HSAN6614653
Ercc5ENSMUSG00000026048MissenseXeroderma pigmentosum, complementation group G; XPG278780
Casp8ENSMUSG00000026029MissenseCASPase 8 deficiency607271
Dermatitis, atopic603165
Tmem237ENSMUSG00000038079MissenseJoubert syndrome 1; JBTS1213300
Joubert syndrome 14; JBTS14614424
Bard1ENSMUSG00000026196MissenseBreast cancer114480
Bcs1lENSMUSG00000026172MissenseBjornstad syndrome; BJS262000
Gracile syndrome603358
Leigh syndrome; LS256000
Mitochondrial complex III deficiency, nuclear type 1; MC3DN1124000
Obsl1ENSMUSG00000026211MissenseThree M syndrome 2; 3 M2612921
Tm4sf20ENSMUSG00000026149MissenseSpecific language impairment 5; SLI5615432
Dis3l2ENSMUSG00000053333MissensePerlman syndrome; PRLMNS267000
ChrngENSMUSG00000026253MissenseMultiple pterygium syndrome, Escobar variant; EVMPS265000
Multiple pterygium syndrome, lethal type; LMPS253290
Ugt1a1ENSMUSG00000089960MissenseCrigler-Najjar syndrome, type I218800
Crigler-Najjar syndrome, type II606785
Gilbert syndrome143500
Hyperbilirubinemia, transient familial neonatal; HBLRTFN237900
Steap3ENSMUSG00000026389MissenseAnemia, hypochromic microcytic, with iron overload 2; AHMIO2615234
Ube2tENSMUSG00000026429MissenseFanconi anemia, complementation group T; FANCT616435
PpoxENSMUSG00000062729MissensePorphyria variegata176200
Ackr1ENSMUSG00000037872MissenseMalaria, susceptibility to611162
Spta1ENSMUSG00000026532MissenseElliptocytosis 2; EL2130600
Pyropoikilocytosis, hereditary; HPP266140
Spherocytosis, type 3; SPH3270970
Ephx1ENSMUSG00000038776MissenseEpoxide hydrolase 1, microsomal; EPHX1132810
Hypercholanemia, familial; FHCA607748
Preeclampsia/eclampsia 1; PEE1189800
Rd3ENSMUSG00000049353MissenseLeber congenital amaurosis 12; LCA12610612
Cd46ENSMUSG00000016493MissenseHemolytic uremic syndrome, atypical, susceptibility to, 2; AHUS2612922
Cr2ENSMUSG00000026616MissenseImmunodeficiency, common variable, 2; CVID2240500
Immunodeficiency, common variable, 7; CVID7614699
Systemic lupus erythematosus, susceptibility to, 9; SLEB9610927

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.