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| Disease Term | Allelic Composition | Genetic Background | Reference | Phenotypes | ||||
| 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 | ||||