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GRXCR1

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Glutaredoxin domain-containing cysteine-rich protein 1 is a protein that in humans is encoded by the GRXCR1 gene.{{cite web | title = Entrez Gene: glutaredoxin, cysteine rich 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=389207| accessdate = 2011-08-30 }}

This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment.{{cite journal |vauthors=Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H | title = Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment | journal = Am. J. Hum. Genet. | volume = 86 | issue = 2 | pages = 138–47 |date=February 2010 | pmid = 20137778 | pmc = 2820176 | doi = 10.1016/j.ajhg.2009.12.017 }} This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells.

Model organisms

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|+ tasmanian devil mouse phenotype

CharacteristicPhenotype
Homozygote viabilitybgcolor="#488ED3"|Normal
Fertilitybgcolor="#488ED3"|Normal
Body weightbgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAMN/weight-curves/ |title=Body weight data for Grxcr1 |publisher=Wellcome Trust Sanger Institute}}
Anxietybgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAMN/open-field/ |title=Anxiety data for Grxcr1 |publisher=Wellcome Trust Sanger Institute}}
Neurological assessmentbgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAMN/neurological-assessment/ |title=Neurological assessment data for Grxcr1 |publisher=Wellcome Trust Sanger Institute}}
Grip strengthbgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAMN/grip-strength/ |title=Grip strength data for Grxcr1 |publisher=Wellcome Trust Sanger Institute}}
Hot platebgcolor="#488ED3"|Normal
Dysmorphologybgcolor="#488ED3"|Normal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAMN/dysmorphology/ |title=Dysmorphology data for Grxcr1 |publisher=Wellcome Trust Sanger Institute}}
Indirect calorimetrybgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAMN/indirect-calorimetry/ |title=Indirect calorimetry data for Grxcr1 |publisher=Wellcome Trust Sanger Institute}}
Glucose tolerance testbgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAMN/glucose-tolerance-ip/ |title=Glucose tolerance test data for Grxcr1 |publisher=Wellcome Trust Sanger Institute}}
Auditory brainstem responsebgcolor="#C40000"|Abnormal
DEXAbgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAMN/body-composition-dexa/ |title=DEXA data for Grxcr1 |publisher=Wellcome Trust Sanger Institute}}
Radiographybgcolor="#488ED3"|Normal
Body temperaturebgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAMN/stress-induced-hyperthermia/ |title=Body temperature data for Grxcr1 |publisher=Wellcome Trust Sanger Institute}}
Eye morphologybgcolor="#488ED3"|Normal
Clinical chemistrybgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAMN/plasma-chemistry/ |title=Clinical chemistry data for Grxcr1 |publisher=Wellcome Trust Sanger Institute}}
Plasma immunoglobulinsbgcolor="#C40000"|Abnormal
Haematologybgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAMN/haematology-cbc/ |title=Haematology data for Grxcr1 |publisher=Wellcome Trust Sanger Institute}}
Peripheral blood lymphocytesbgcolor="#C40000"|Abnormal
Micronucleus testbgcolor="#488ED3"|Normal
Heart weightbgcolor="#488ED3"|Normal
Tail epidermis wholemountbgcolor="#488ED3"|Normal
Skin Histopathologybgcolor="#488ED3"|Normal
Brain histopathologybgcolor="#488ED3"|Normal
colspan=2; style="text-align: center;" | All tests and analysis from{{cite journal | doi = 10.1111/j.1755-3768.2010.4142.x | title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice | year = 2010 | author = Gerdin AK | journal = Acta Ophthalmologica | volume = 88 | pages = 925–7 | s2cid = 85911512 }}[http://www.sanger.ac.uk/mouseportal/ Mouse Resources Portal], Wellcome Trust Sanger Institute.

Model organisms have been used in the study of GRXCR1 function. A mutant mouse line, called tasmanian devil (Grxcr1tde{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Grxcr1 |title=International Knockout Mouse Consortium}}) was generated. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.{{cite journal|vauthors=van der Weyden L, White JK, Adams DJ, Logan DW | title=The mouse genetics toolkit: revealing function and mechanism. | journal=Genome Biol | year= 2011 | volume= 12 | issue= 6 | pages= 224 | pmid=21722353 | doi=10.1186/gb-2011-12-6-224 | pmc=3218837 | doi-access=free }} Twenty four tests were carried out on mutant mice and thirteen significant abnormalities were observed. Homozygous mutant animals of both sex displayed decreased body weights, grip strength, body fat, body length and plasma immunoglobulins, abnormal open field test and modified SHIRPA behaviour, and severe hearing impairment at 13 weeks. Male homozygous mutant animals additionally showed abnormal indirect calorimetry and clinical chemistry parameters, improved glucose tolerance and a decreased leukocyte cell number. Female homozygotes also had an increased response to stress-induced hyperthermia and a significantly reduced monocyte percentage.

References

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Category:Genes mutated in mice

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