Analysis Tools|
Allele Symbol Allele Name Allele ID |
Bckdhbem1(IMPC)J endonuclease-mediated mutation 1, Jackson MGI:5825325 |
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| Summary |
3 genotypes
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Data Sources
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all mice die before the end of the first week of life
• following gene therapy via a single temporal vein injection of a AAV8-EF1alpha-hBCKDHB vector (1014 vg/kg) at P0, one of 8 injected mice dies at P26 while the remaining 7 mice survive to >6 months of age with no apparent defects (2 of these 7 survive to 12 months with good control of plasma leucine levels and a normal hindlimb test)
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• mice that survive to P5 display severe growth delay
• neonatal AAV8-EF1alpha-hBCKDHB gene therapy restores the growth (weight) of both sexes to control values up to P196
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• mice show a striking increase in plasma levels of the branched-chain amino acids (BCAA) valine, leucine and alloisoleucine at P1, along with a decrease in alanine levels resulting in a high leucine/alanine ratio
• neonatal AAV8-EF1alpha-hBCKDHB gene therapy reduces plasma BCAA levels to less than 2-fold above normal until 6 months of age and alloisoleucine is not detectable
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• mice show a significant decrease in plasma alanine levels at P1
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• mice show a significant increase in plasma leucine levels at P1
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• mice show a significant increase in plasma valine levels at P1
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• mice show absence of branched-chain 2-ketoacid dehydrogenase (BCKD) activity in the liver at P1
• neonatal gene therapy increases liver BCKD activity to 16 +/- 8 % and 17 +/- 1 % the values of age-matched untreated wild-type controls at 6 and 12 months, respectively
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| maple syrup urine disease | DOID:9269 |
OMIM:246900 OMIM:248600 OMIM:615135 |
J:344897 | |
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Data Sources
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 11/05/2024 MGI 6.24 |
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