About   Help   FAQ
Thtm1Tna
Targeted Allele Detail
Summary
Symbol: Thtm1Tna
Name: tyrosine hydroxylase; targeted mutation 1, Toshiharu Nagatsu
MGI ID: MGI:1860453
Synonyms: TH-/-
Gene: Th  Location: Chr7:142446516-142453732 bp, - strand  Genetic Position: Chr7, 88.06 cM
Alliance: Thtm1Tna page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:30273
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 0.3 kb fragment encompassing a 3' portion of exon 7 and a 5' portion of exon 8 was replaced with a neomycin selection cassette inserted by homologous recombination. (J:30273)
Inheritance:    Recessive
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 6 assay results
In Structures Affected by this Mutation: 3 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Th Mutation:  58 strains or lines available
Notes
Transfer of a human tyrosine hydroxylase transgene into homozygous mice restores perinatal survival and corrects catecholamine levels at adulthood, with rescued mutants appearing normal and healthy for at least 5 to 6 months (J:30273). In heterozygotes, tyrosine hydroxylase activity in embryos and adult tissues is less than 50% of wild-type values, but catecholamine levels are reduced only moderately in the developing animals and maintained normally at adulthood (J:30273).
References
Original:  J:30273 Kobayashi K, et al., Targeted disruption of the tyrosine hydroxylase locus results in severe catecholamine depletion and perinatal lethality in mice. J Biol Chem. 1995 Nov 10;270(45):27235-43
All:  9 reference(s)

Contributing Projects:
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
12/10/2024
MGI 6.24
The Jackson Laboratory