|
|
| Nomenclature |
|
Symbol:
|
Thtm1Srt
|
|
Name:
|
tyrosine hydroxylase;
targeted mutation 1, Suzanne Roffler-Tarlov
|
|
MGI ID: |
MGI:1860480 |
|
Synonyms: |
Th-, TH-null |
|
Gene:
|
Th
Location:
Chr7:142892752-142931128 bp, - strand
Genetic Position: Chr7,
88.06 cM
|
|
Mutation origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:54692
|
|
Parent Cell Line:
| D3 (ES Cell) |
|
Strain of Origin:
|
129S2/SvPas
|
|
Mutation description |
|
Allele
Type: | |
Targeted (knock-out) |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
Mutation details: A neomycin selection cassette was used to replace sequence from exons 6, 7, and 8. The deleted region encompassed 268 nucleotides encoding a portion of the catalytic domain. Low levels of a peptide, slightly smaller than normal, were detected by Western blot analysis of extracts obtained from homozygous mutant fetuses. The mutant peptide could not be detected by immunohistochemical analysis of fetal adrenals or in fetal or postnatal brains. (J:54692)
|
|
Inheritance: | |
Recessive |
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| References |
|
Original: |
J:54692
Rios M et al.,
"Catecholamine synthesis is mediated by tyrosinase in the absence of tyrosine hydroxylase."
J Neurosci 1999 May 1;19(9):3519-26
|
|
All: |
6 reference(s)
|
|