About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ptstm1Thny
targeted mutation 1, Beat Thony
MGI:2669828
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ptstm1Thny/Ptstm1Thny involves: 129/Sv * C57BL/6 MGI:2672965


Genotype
MGI:2672965
hm1
Allelic
Composition
Ptstm1Thny/Ptstm1Thny
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptstm1Thny mutation (0 available); any Pts mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• with no therapy, most dead within hours after birth, incomplete penetrance
• approximately 15% survived neonatal period, but were dead by 7 days, with no therapy
• survived no longer than 3 weeks on low dose therapy
• survived no longer than 40 days after medium dose therapy

pigmentation
• if survived, regardless of therapy

behavior/neurological
• if survived, regardless of therapy
• if survived, regardless of therapy
• if survived, regardless of therapy
• if survived, regardless of therapy

endocrine/exocrine glands
• if survived, regardless of therapy

growth/size/body
• if survived, regardless of treatment

homeostasis/metabolism
• if survived, regardless of therapy
• phenylalaninemia with no, low and medium dose therapy
• decreased in brain, regardless of therapy
• decreased in liver and brain with no and low dose therapy
• elevated in liver and brain, regardless of therapy
• decreased in brain, severely on no and low dose therapy, 50% of normal on medium and high dose therapy

reproductive system
• absent, if survived, regardless of therapy

nervous system
• decreased in brain, regardless of therapy

digestive/alimentary system
• if survived, regardless of therapy

muscle
• if survived, regardless of therapy

integument
• if survived, regardless of therapy
• if survived, regardless of therapy

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Bh4-deficient hyperphenylalaninemia A DOID:0090106 OMIM:261640
J:84533





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/05/2017
MGI 6.11
The Jackson Laboratory