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Thratm2Jas
Targeted Allele Detail
Summary
Symbol: Thratm2Jas
Name: thyroid hormone receptor alpha; targeted mutation 2, Jacques Samarut
MGI ID: MGI:2183135
Synonyms: TRalpha0
Gene: Thra  Location: Chr11:98631539-98659832 bp, + strand  Genetic Position: Chr11, 62.58 cM, cytoband D-E
Alliance: Thratm2Jas page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:70007
Parent Cell Line:  ENS (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 5 through 7 were replaced with a cassette comprised of lacZ and neo. The targeting vector was designed to abolish transcription of the four known isoforms produced from this locus. The deleted region encoded the DNA-binding domain found in the two larger isoforms and the internal promoter in intron 7 that drives the transcription of the two truncated isoforms. Northern blot and RT-PCR analyses of intestinal RNA showed the absence of all four transcripts in homozygous mutant mice. RNA protection assays revealed the occasional presence of the truncated transcripts resulting from sporadic readthrough of the stop codons contained within the inserted cassette. (J:70007)
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: 129
 
involves: 129/Sv * C57BL/6
 
 
Phenotypes:
Affected Systems
show or hide all annotated terms
     
cardiovascular system
decreased heart ventricle muscle contractility
decreased heart rate
prolonged QRS complex duration
cellular
abnormal intestinal goblet cell morphology
abnormal enterocyte proliferation
digestive/alimentary system
abnormal intestinal mucosa morphology
abnormal intestinal goblet cell morphology
decreased small intestinal villus height
abnormal enterocyte physiology
abnormal enterocyte proliferation
endocrine/exocrine glands
decreased activity of thyroid gland
growth/size/body
decreased body weight
postnatal growth retardation
hematopoietic system
decreased osteoclast cell number
abnormal osteoclast physiology
homeostasis/metabolism
decreased circulating thyroxine level
increased circulating thyroxine level
increased circulating triiodothyronine level
decreased circulating insulin-like growth factor I level
decreased circulating thyroid-stimulating hormone level
increased circulating thyroid-stimulating hormone level
abnormal enzyme/coenzyme activity
abnormal response/metabolism to endogenous compounds
immune system
decreased osteoclast cell number
abnormal osteoclast physiology
limbs/digits/tail
short tibia
short limbs
short tail
muscle
decreased heart ventricle muscle contractility
skeleton
skeleton phenotype
N
abnormal osteoclast physiology
short tibia
abnormal long bone epiphyseal plate morphology
decreased width of hypertrophic chondrocyte zone
increased long bone epiphyseal plate size
abnormal bone structure
decreased osteoclast cell number
decreased compact bone thickness
abnormal trabecular bone morphology
increased trabecular bone thickness
increased bone mass
osteosclerosis
delayed endochondral bone ossification
abnormal chondrocyte physiology
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 18 assay results
1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 17 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 Thra Mutation:  40 strains or lines available
References
Original:  J:70007 Gauthier K, et al., Genetic analysis reveals different functions for the products of the thyroid hormone receptor alpha locus. Mol Cell Biol. 2001 Jul;21(14):4748-60
All:  34 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