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Thtm1Tna
Targeted Allele Detail
Nomenclature
Symbol: Thtm1Tna
Name: tyrosine hydroxylase; targeted mutation 1, Toshiharu Nagatsu
MGI ID: MGI:1860453
Synonyms: TH-/-
Gene: Th  Location: Chr7:142892779-142899995 bp, - strand  Genetic Position: Chr7, 88.06 cM
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
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structures
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:  44 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:  4 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)
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last database update
05/26/2020
MGI 6.15
The Jackson Laboratory