Excel File Text File All mouse models of amino acid metabolic disorder with phenotypic similarity to the human disease
        Disease Term Allelic Composition Genetic Background Reference Phenotypes
      2-aminoadipic 2-oxoadipic aciduria Dhtkd1em1Hpr/Dhtkd1em1Hpr involves: C57BL/6N * FVB/N J:256227 View
3-methylglutaconic aciduria type 3 Opa3m1Votr/Opa3m1Votr involves: C3H * C57BL/6JCrl J:181670, J:188346 View
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Serac1em1Bcgen/Serac1em1Bcgen C57BL/6N-Serac1em1Bcgen J:326672 View
alkaptonuria Hgdaku/Hgdaku either: (involves: 129/Sv * BALB/cByJ * NB) or (involves: 129/Sv * C57BL/6J * NB) J:16506 View
alkaptonuria Hgdtm1a(KOMP)Wtsi/Hgdtm1a(KOMP)Wtsi involves: C57BL/6N J:287389 View
argininosuccinic aciduria Asltm1Brle/Asltm1Brle involves: 129S7/SvEvBrd J:196817 View
argininosuccinic aciduria Asltm1Wjc/Asltm1Wjc involves: 129S7/SvEvBrd J:101658 View
Barth syndrome Gt(ROSA)26Sortm37(H1/tetO-RNAi:Tafazzin)Arte/? Not Specified J:176041 View
Barth syndrome Gt(ROSA)26Sortm37(H1/tetO-RNAi:Tafazzin)Arte/Gt(ROSA)26Sor+ involves: 129S6/SvEvTac * C57BL/6J J:167527 View
Barth syndrome Tafazzinem1Xfa/Y
Tg(myl7.L-cre)1118Tmhn/0		 involves: C57BL/6NCrl * MF1 J:339058 View
BH4-deficient hyperphenylalaninemia A Ptstm1Ich/Ptstm1Ich involves: 129X1/SvJ * C57BL/6J J:84764 View
BH4-deficient hyperphenylalaninemia A Ptstm1Thny/Ptstm1Thny involves: 129/Sv * C57BL/6 J:84533 View
BH4-deficient hyperphenylalaninemia B Gch1em1Ypt/Gch1em1Ypt C57BL/6-Gch1em1Ypt J:295169 View
biotinidase deficiency Btdtm1Bwol/Btdtm1Bwol B6.Cg-Btdtm1Bwol J:168391 View
branched-chain keto acid dehydrogenase kinase deficiency BckdkGt(VICT48)710Lex/BckdkGt(VICT48)710Lex B6.129S5/SvEvBrd-BckdkGt(VICT48)710Lex J:187971 View
Brunner Syndrome MaoaK284stop/Y 129S6/SvEvTac-MaoaK284stop J:136818 View
Brunner Syndrome MaoaTg(H2-K1-Ifnb1)8Seif/Y involves: C3H/HeJ J:26232 View
carbamoyl phosphate synthetase I deficiency disease Cps1tm1Mw/Cps1tm1Mw involves: 129S7/SvEvBrd * C57BL/6 J:52334 View
cerebral creatine deficiency syndrome 1 Slc6a8tm1.1Clar/Y
Tg(Camk2a-cre)2Gsc/0		 involves: C57BL/6 * C57BL/6J * FVB/N J:190081 View
cerebral creatine deficiency syndrome 1 Slc6a8tm1.2Clar/Y involves: BALB/cJ * C57BL/6 * C57BL/6J * SJL J:169472 View
cerebral creatine deficiency syndrome 1 Slc6a8tm1.2Lbar/Y involves: 129 * 129S1/Sv * C57BL/6J * C57BL/6N J:238578 View
cerebral creatine deficiency syndrome 1 Slc6a8tm1.2Lbar/Y involves: 129 * 129S1/Sv * C57BL/6N J:232606 View
cerebral creatine deficiency syndrome 1 Slc6a8tm1e(KOMP)Wtsi/Y involves: C57BL/6J * C57BL/6N J:264220 View
citrullinemia Ass1bar/Ass1bar B6.BAR-Ass1bar J:165341 View
citrullinemia Ass1bar/Ass1bar FVB.BAR-Ass1bar J:165341 View
citrullinemia Ass1bar/Ass1fold involves: C57BL/6Ei * C57BL/6J * OF1 * P/J J:165341 View
citrullinemia Ass1fold/Ass1fold B6Ei.P-Ass1fold/GrsrJ J:165341 View
citrullinemia Ass1fold/Ass1fold involves: C57BL/6JEiJ * P/J J:165341 View
citrullinemia Ass1tm1Bay/Ass1tm1Bay involves: 129S7/SvEvBrd * C57BL/6J J:18326 View
cystathioninuria Cthtm1Iish/Cthtm1Iish B6.129-Cthtm1Iish/Iish J:166184 View
cystinuria Slc3a1m1Crl/Slc3a1m1Crl 129S2/SvPasCrl J:219017 View
cystinuria Slc3a1pbl/Slc3a1pbl C3HeB/FeJ-Slc3a1pbl J:85461 View
cystinuria Slc3a1pbl/Slc3a1pbl involves: C3HeB/FeJ * MRL/MpJ J:85461 View
cystinuria Slc3a1tm1Jat/Slc3a1tm1Jat involves: 129 * C57BL/6 J:254981, J:254803 View
cystinuria Slc7a9tm1Nune/Slc7a9+ involves: 129P2/OlaHsd * C57BL/6J J:85462 View
cystinuria Slc7a9tm1Nune/Slc7a9tm1Nune involves: 129P2/OlaHsd * C57BL/6J J:85462 View
dicarboxylic aminoaciduria Slc1a1tm1Wst/Slc1a1tm1Wst involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:41613 View
diphthamide deficiency syndrome 1 Dph1em1Swei/Dph1em2Swei C57BL/6J-Dph1em1Swei Dph1em2Swei J:347602 View
glutaric acidemia I Gcdhtm1Dmk/Gcdhtm1Dmk involves: 129S4/SvJae * C57BL/6J J:77874 View
glutaric acidemia I Gcdhtm1Dmk/Gcdhtm1Dmk involves: 129S4/SvJae * C57BL/6N * FVB/N J:256227 View
glycine encephalopathy GldcGt(EUCG0001d02)Hmgu/GldcGt(EUCG0001d02)Hmgu B6.129P2-GldcGt(EUCG0001d02)Hmgu J:221782 View
glycine N-methyltransferase deficiency Gnmttm1Cwa/Gnmttm1Cwa involves: 129 * C57BL/6J J:110257 View
glycine N-methyltransferase deficiency Gnmttm1Ymac/Gnmttm1Ymac involves: 129 * C57BL/6 J:147857 View
guanidinoacetate methyltransferase deficiency Gamttm1Isb/Gamttm1Isb involves: 129S1/Sv * 129X1/SvJ J:90367 View
Hartnup disease Slc6a19tm1Dgen/Slc6a19tm1Dgen involves: 129 * C57BL/6J J:175382 View
HMG-CoA synthase 2 deficiency Hmgcs2em1(IMPC)Tcp/Hmgcs2+ C57BL/6NCrl-Hmgcs2em1(IMPC)Tcp J:326918 View
HMG-CoA synthase 2 deficiency Hmgcs2em1(IMPC)Tcp/Hmgcs2em1(IMPC)Tcp C57BL/6NCrl-Hmgcs2em1(IMPC)Tcp J:326918 View
homocystinuria Apoetm1Unc/Apoetm1Unc
Cbstm1Unc/Cbstm1Unc
Tg(Mt1-CBS)25Waku/0		 involves: 129P2/OlaHsd * C3H * C57BL/6 J:168131 View
homocystinuria Cbstm1Unc/Cbs+ B6.129P2-Cbstm1Unc/J J:213631 View
homocystinuria Cbstm1Unc/Cbstm1Unc involves: 129P2/OlaHsd * C57BL/6J J:105571 View
homocystinuria Cbstm1Unc/Cbstm1Unc
Tg(CBS)11181Eri/0		 involves: 129P2/OlaHsd * C57BL/6J J:165612 View
hyperargininemia Arg1tm1Rki/Arg1tm1Rki Not Specified J:83263 View
hyperhomocysteinemia Cbstm1Unc/Cbs+ involves: 129P2/OlaHsd J:112538 View
hyperhomocysteinemia Cbstm1Unc/Cbstm1Unc involves: 129P2/OlaHsd J:112538 View
L-2-hydroxyglutaric aciduria L2hgdhGt(DC0625)Wtsi/L2hgdhGt(DC0625)Wtsi involves: 129P2/OlaHsd * C57BL/6 J:228407 View
lysinuric protein intolerance Slc7a7em1Lbu/Slc7a7em1Lbu involves: 129/SvEv * C57BL/6 J:293773 View
maple syrup urine disease Bckdhbem1(IMPC)J/Bckdhbem1(IMPC)J CByJ.B6-Bckdhbem1(IMPC)J J:344897 View
maple syrup urine disease Dbttm1Geh/Dbttm1Geh involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:119973 View
maple syrup urine disease Dbttm1Geh/Dbttm1Geh
Tg(tetO-DBT)525AGeh/0
Tg(Cebpb-tTA)5Bjd/0		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB * NMRI J:119973 View
maple syrup urine disease Dbttm1Geh/Dbttm1Geh
Tg(tetO-DBT)A1Geh/0
Tg(Cebpb-tTA)5Bjd/0		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB * NMRI J:119973 View
maple syrup urine disease Ppm1ktm1Yiwa/Ppm1ktm1Yiwa involves: 129/Sv * C57BL/6 J:150451 View
methylmalonic acidemia and homocysteinemia cblX type Hcfc1em1Poche/Y C57BL/6J-Hcfc1em1Poche J:317822 View
methylmalonic acidemia due to transcobalamin receptor defect Cd320Gt(CC0426)Wtsi/Cd320Gt(CC0426)Wtsi involves: 129P2/OlaHsd * C57BL/6 J:199961 View
methylmalonic aciduria and homocystinuria type cblC MmachcGt(AZ0348)Wtsi/Mmachc+ involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 J:212387 View
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Mmutem1Cpv/Mmutem1Cpv involves: 129S/SvEv * C57BL/6 * FVB/N J:332892 View
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Mmutem2Cpv/Mmutem2Cpv involves: 129S/SvEv * C57BL/6 * FVB/N J:332892 View
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Mmuttm1.1Mrb/Mmuttm1.1Mrb involves: C57BL/6 J:237040 View
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Mmuttm1Cpv/Mmuttm1Cpv Not Specified J:147338 View
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Mmuttm1Cpv/Mmuttm1Cpv
Tg(Alb-Mut)#Cpv/0		 involves: C57BL/6 J:200689 View
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Mmuttm1Pai/Mmuttm1.1Mrb involves: 129S1/Sv * C57BL/6 J:237040 View
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Mmuttm1Pai/Mmuttm1Pai involves: 129S1/Sv * C57BL/6 J:87081 View
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Mmuttm1Pai/Mmuttm1Pai
Tg(MUT)AHlps/0
Tg(MUT*R403X)#Hlps/0		 involves: 129S1/Sv * C57BL/6 J:191879 View
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Mmuttm1Pai/Mmuttm1Pai
Tg(MUT*R403X)#Hlps/0		 involves: 129S1/Sv * C57BL/6 J:191879 View
ornithine carbamoyltransferase deficiency Otcspf-ash/Y B6EiC3Sn a/A-Otcspf-ash/J J:108979 View
ornithine carbamoyltransferase deficiency Otcspf-ash/Y Not Specified J:26977 View
ornithine carbamoyltransferase deficiency Otcspf-J/Y C57BL/6J-Otcspf-J/J J:226209 View
ornithine carbamoyltransferase deficiency Otcspf/Otcspf involves: CD-1 J:784 View
ornithine carbamoyltransferase deficiency Otcspf/Y involves: C3H/HeJ * C57BL/6J J:31237 View
ornithine carbamoyltransferase deficiency Otcspf/Y involves: C57BL/6 J:1966 View
ornithine carbamoyltransferase deficiency Otcspf/Y involves: CD-1 J:784, J:19848, J:23195 View
ornithine carbamoyltransferase deficiency Otcspf/Y Not Specified J:7789, J:23017 View
phenylketonuria Pahem1Skym/Pahem1Skym C57BL/6J-Pahem1Skym J:305392 View
phenylketonuria Pahenu2/Pahenu2 BTBR-Pahenu2/J J:178269 View
phenylketonuria Pahenu2/Pahenu2 involves: BTBR J:38411 View
phenylketonuria Pahenu3/Pahenu3 involves: BTBR J:13320 View
propionic acidemia Pccatm1Tmiy/Pccatm1Tmiy involves: 129P2/OlaHsd * C57BL/6 J:71660 View
propionic acidemia Pccatm1Tmiy/Pccatm1Tmiy
Tg(CAG-PCCA*A138T,-EGFP)#Miab/0		 involves: 129P2/OlaHsd * FVB/N J:286218, J:282292 View
systemic primary carnitine deficiency disease Slc22a5jvs/Slc22a5jvs C3.OH-H2o2 Slc22a5jvs J:31026, J:14288, J:31000, J:13736, J:18523, J:40286, J:51313, J:53598 View
tyrosinemia type I Fah1R/Fah1R involves: BALB/cRl * C3H/Rl * C57BL/10Rl J:67045 View
tyrosinemia type I Fah2R/Fah2R involves: BALB/cRl J:67045 View
tyrosinemia type I Fahtm1Mgo/Fahtm1Mgo involves: 129S7/SvEvBrd * C57BL J:27735 View
tyrosinemia type I Fahtm1Mgo/Fahtm1Mgo involves: 129S7/SvEvBrd * PT J:77295 View
tyrosinemia type III Hpdhty/Hpdhty ICRIII J:14313 View
      Barth syndrome Fkbp1atm1Zuk/Fkbp1atm1Zuk either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J) J:45536 View
Barth syndrome Mesttm1Masu/Mest+ involves: 129S1/Sv * 129X1/SvJ J:79223 View
glycine encephalopathy Slc6a9tm1Betz/Slc6a9tm1Betz involves: 129P2/OlaHsd * C57BL/6 J:86624 View
maple syrup urine disease Bcat2m1Ytc/Bcat2m1Ytc C57BL/6J-Bcat2m1Ytc J:87589 View
methylmalonic aciduria and homocystinuria type cblC Thap11em1Poche/Thap11em1Poche C57BL/6J-Thap11em1Poche J:317822 View
phenylketonuria Hnf1atm1Mya/Hnf1atm1Mya involves: 129S2/SvPas J:31627 View
phenylketonuria hph1/hph1 involves: C57BL/6 * CBA/Ca J:9146, J:101792 View
sarcosinemia sar/sar BTBR-sar J:37 View
Additional
Complex
Models		     citrullinemia Gpd2tm1Tka/Gpd2tm1Tka
Slc25a13tm1Lct/Slc25a13tm1Lct		 B6.Cg-Gpd2tm1Tka Slc25a13tm1Lct J:124766 View
D-2-hydroxyglutaric aciduria Col1a1tm3(CAG-IDH2*R140Q)Kkw/Col1a1+
Tmem163Tg(ACTB-cre)2Mrt/0		 involves: 129S4/SvJae * BALB/c * C57BL/6 * FVB/N J:209629 View

       
No similarity to the expected human disease phenotype was found.
        Disease Term Allelic Composition Genetic Background Reference Phenotypes
NOT Models      citrullinemia Slc25a13tm1Lct/Slc25a13tm1Lct either: 129/Sv-Slc25a13tm1Lct or (involves: 129S1/Sv * 129X1/SvJ * CD-1) J:87578 View
phenylketonuria Pahenu1/Pahenu1 involves: 101 * C3H J:38411 View
phenylketonuria Pahenu1/Pahenu2 involves: 101 * C3H * BTBR J:62365 View