Analysis Tools
mortality/aging
|
• 100% mortality within the first 2 days of life
|
|
Allele Symbol Allele Name Allele ID |
Ptstm1Ich targeted mutation 1, Hiroshi Ichinose MGI:2669870 |
||||||||||||||||||||
| Summary |
4 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 100% mortality within the first 2 days of life
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 100% of mortality within the first 2 days of life
• repeated injections of BH4 allow for survival up to P7
|
|
• 36% fewer beats per minute than wild-type
|
|
• accumulation of phenylalanine in the brain and liver tissues in mice where survival is prolonged by BH4 treatment
|
|
• reduced levels in the brain
|
|
• decreased biopterin levels in the brain
|
|
• increased neopterin levels in the brain
|
|
• reduced levels in the brain
|
|
• peripheral nervous system function is impaired
• nerve fibers but not cell bodies of dopaminergic and noradrenergic neurons show reduced expression of tyrosine hydroxylase
• sympathetic nerve terminals in the kidney have reduced levels of tyrosine hydroxylase
|
|
• in mice given repeated BH4 injections
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| BH4-deficient hyperphenylalaninemia A | DOID:0090106 |
OMIM:261640 |
J:84764 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• fewer than expected females are found at weaning
• however, unlike homozygous mice without the transgene, mice survive past weaning
|
|
• injection of BH4 (20 mg/kg) results in a dramatic decrease in plasma phenylalanine level, a similar injection does not alter phenylalanine levels in controls
|
|
• biopterin content in the liver is about 0.1% of that in wild-type controls
• biopterin levels in the striatum are reduced while levels in the midbrain are closer to those in controls
|
|
• neopterin levels are increased to 2980 pmol/mg protein in the liver compared to undetectable levels in wild-type controls
• neopterin levels are elevated in the brain
|
|
• serotonin levels are low in the pons-medulla and hypothalamus
|
|
• tyrosine hydroxylase activity is mildly decreased in the midbrain and more severely decreased in the striatum
|
|
• at 4 weeks of age, average body weight is about 56% that of controls
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| dystonia | DOID:543 |
OMIM:PS128100 |
J:102278 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• striatal tyrosine hydroxylase expression is markedly reduced in the caudoputamen and in the lateral part of the olfactory tubercle but not in the nucleus accumbens
• loss of tyrosine hydroxylase expression results from progressive postnatal loss of expression and failure to increase expression with maturation
|
|
• responses to stimulation with a dopamine agonist suggest dopaminergic hypersensitivity in the striatum particularly in the striosomes
|
|
• first detected at 2 weeks of age
|
|
• in balance beam tests mice are slower and make more foot slips
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| dystonia | DOID:543 |
OMIM:PS128100 |
J:138968 | |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/23/2024 MGI 6.23 |
|
|
|
||