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Thtm1Rpa
Targeted Allele Detail
Summary
Symbol: Thtm1Rpa
Name: tyrosine hydroxylase; targeted mutation 1, Richard D Palmiter
MGI ID: MGI:1860450
Synonyms: DA-, pTH4, TH-
Gene: Th  Location: Chr7:142446516-142453732 bp, - strand  Genetic Position: Chr7, 88.06 cM
Alliance: Thtm1Rpa page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:24347
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
    A neomycin selection cassette replaced the proximal promoter and exons 1 and 2. (J:24347)
Inheritance:    Recessive
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
involves: 129S7/SvEvBrd * C57BL/6
 
involves: 129S7/SvEvBrd
 
involves: 129S7/SvEvBrd * C57BL/6J
 
Phenotypes:
Affected Systems
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behavior/neurological
impaired behavioral response to addictive substance
adipsia
aphagia
decreased food intake
decreased compensatory feeding amount
poor grooming
hyporesponsive to tactile stimuli
abnormal motor coordination/balance
impaired coordination
weakness
hunched posture
akinesia
abnormal gait
decreased locomotor activity
hyperactivity
decreased stereotypic behavior
increased stereotypic behavior
catalepsy
cardiovascular system
blood vessel congestion
liver vascular congestion
fetal cardiomyocyte disarray
fetal cardiomyocyte vacuoles
abnormal heart atrium morphology
dilated heart atrium
decreased heart rate
growth/size/body
decreased body size
decreased body weight
weight loss
homeostasis/metabolism
decreased dopamine level
liver/biliary system
liver vascular congestion
mortality/aging
premature death
postnatal lethality, complete penetrance
lethality throughout fetal growth and development, incomplete penetrance
embryonic lethality during organogenesis, incomplete penetrance
nervous system
decreased brain size
abnormal nervous system physiology
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 4 assay results
In Structures Affected by this Mutation: 6 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Th Mutation:  58 strains or lines available
References
Original:  J:24347 Zhou QY, et al., Targeted disruption of the tyrosine hydroxylase gene reveals that catecholamines are required for mouse fetal development. Nature. 1995 Apr 13;374(6523):640-3
All:  14 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
12/10/2024
MGI 6.24
The Jackson Laboratory