Th^tm1Tna
Targeted Allele Detail

Summary

• Symbol: Th^tm1Tna
• 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: Th^tm1Tna 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 details: A 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

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: 57 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)