Tshr MGI Mouse Gene Detail - MGI:98849 - thyroid stimulating hormone receptor

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Tshr Gene Detail
Summary
  • Symbol
    Tshr
  • Name
    thyroid stimulating hormone receptor
  • Synonyms
    hypothroid, hyt, pet
  • Feature Type
    protein coding gene
  • IDs
    MGI:98849
    NCBI Gene: 22095
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:91367767-91507283 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 12, 44.51 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3650 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98849
protein coding gene Chr12:91351337-91516582 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019998
protein coding gene Chr12:92528193-92646942 (+)
A/J MGP_AJ_G0019953
protein coding gene Chr12:89054908-89171256 (+)
AKR/J MGP_AKRJ_G0019929
protein coding gene Chr12:91451497-91565422 (+)
BALB/cJ MGP_BALBcJ_G0019939
protein coding gene Chr12:89342253-89457890 (+)
C3H/HeJ MGP_C3HHeJ_G0019741
protein coding gene Chr12:92057243-92176491 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020388
protein coding gene Chr12:95256577-95395930 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018002
protein coding gene Chr12:86505965-86618938 (+)
CAST/EiJ MGP_CASTEiJ_G0019288
protein coding gene Chr12:86971808-87088664 (+)
CBA/J MGP_CBAJ_G0019713
protein coding gene Chr12:98834318-98960272 (+)
DBA/2J MGP_DBA2J_G0019824
protein coding gene Chr12:88529700-88645932 (+)
FVB/NJ MGP_FVBNJ_G0019813
protein coding gene Chr12:87398655-87518977 (+)
LP/J MGP_LPJ_G0019900
protein coding gene Chr12:92325231-92447779 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019854
protein coding gene Chr12:101605937-101746570 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020417
protein coding gene Chr12:91067952-91185191 (+)
PWK/PhJ MGP_PWKPhJ_G0019051
protein coding gene Chr12:83110284-83227303 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018847
protein coding gene Chr12:85217804-85323403 (+)
WSB/EiJ MGP_WSBEiJ_G0019341
protein coding gene Chr12:91794737-91929741 (+)



Homology
more
  • Human Ortholog
    TSHR, thyroid stimulating hormone receptor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TSHR, thyroid stimulating hormone receptor
  • Synonyms
    CHNG1, hTSHR-I, LGR3
  • Links
    NCBI Gene ID: 7253
    UniProt: P16473

  • Chr Location
    14q31.1; chr14:80954989-81146306 (+) GRCh38
Human Diseases
more
  • Diseases
    1 with Tshr mouse models; 7 with human TSHR associations

Human Disease Mouse Models
IDs
congenital hypothyroidism

DOID:0050328
DOID:11631
DOID:11632
ICD10CM:E00.1
ICD10CM:E03.1
ICD9CM:243
MESH:D003409
NCI:C26734
NCI:C98921
OMIM:PS275200
UMLS_CUI:C0010308
UMLS_CUI:C0342200

 View 4 models
Mouse Models

Human Disease Modeled: congenital hypothyroidism

Allelic Composition Genetic Background Reference Phenotypes
Tshrhyt/Tshrhyt
CBy.RF-Tshrhyt/J J:110962 J:130062 View
Tshrhyt-3J/Tshrhyt-3J
CByJ;CXB10-Tshrhyt-3J/GrsrJ J:210510 View
Tshrhyt-3J/Tshrhyt-3J
CXB10/HiAJ-Tshrhyt-3J/GrsrJ J:210510 View
Tshrtm1Rmar/Tshrtm1Rmar
involves: 129S1/Sv * C57BL/6J J:80513 View
IDs
cardiomyopathy

DOID:0050700
ICD10CM:I42
ICD9CM:425
ICD9CM:425.9
MESH:D009202
NCI:C34830
NCI:C53654
UMLS_CUI:C0033141
UMLS_CUI:C0036529
UMLS_CUI:C0878544
IDs
congenital nongoitrous hypothyroidism 1

DOID:0070126
ICD10CM:E03.1
OMIM:275200

IDs
familial gestational hyperthyroidism
IDs
Graves ophthalmopathy
IDs
Graves' disease

DOID:12361
EFO:0004237
ICD10CM:E05.0
MESH:D006111
NCI:C3071
OMIM:275000
UMLS_CUI:C0018213
IDs
mitral valve prolapse
IDs
nonautoimmune hyperthyroidism
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    68 phenotypes from 5 alleles in 8 genetic backgrounds
    3 phenotypes from multigenic genotypes
    86 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations in this gene exhibit profound hypothyroidism, developmental and growth retardation, impaired hearing with cochlear defects, and infertility. One mutation results in high postweaning mortality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22095 NCBI Gene Model | MGI Sequence Detail 139517 C57BL/6J ± kb
    transcript NM_011648 RefSeq | MGI Sequence Detail 4332 ZRU/MplStud
    polypeptide P47750 UniProt | EBI | MGI Sequence Detail 764 Not Applicable
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 36
      Genomic 5
      cDNA 27
      Primer pair 4

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-11041, MGD-MRK-13241, MGD-MRK-15275, MGI:2144847
    References
    more
    • Summaries
      All 155
      Developmental Gene Expression 15
      Diseases 4
      Gene Ontology 16
      Phenotypes 86
    • Earliest
      J:6479 Beamer WJ, et al., Inherited primary hypothyroidism in mice. Science. 1981 Apr 3;212(4490):61-3
    • Latest
      J:363400 Makkonen K, et al., Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model. JCI Insight. 2024 Jan 9;9(4)
    TSS for Tshr:
    (View these features in JBrowse)
    Transcription Start Site Location Distance from Gene 5'-end
    Tssr114585 Chr12:91367212-91367226 (+) -548 bp
    Tssr114586 Chr12:91367240-91367251 (+) -521 bp
    Tssr114587 Chr12:91367764-91367796 (+) 13 bp
    Tssr114588 Chr12:91367798-91367812 (+) 38 bp
    Tssr114589 Chr12:91370796-91370827 (+) 3,045 bp
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support. last database update
    10/07/2025
    MGI 6.24 The Jackson Laboratory
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