FAM134C

RETREG3
Identifiers
Aliases	RETREG3, FAM134C, reticulophagy regulator family member 3
External IDs	OMIM: 616498; MGI: 1915248; HomoloGene: 23585; GeneCards: RETREG3; OMA:RETREG3 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	42,610,623 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	101,010,719 bp
RNA expression pattern
	Top expressed in
	parotid gland; ; nipple; ; periodontal fiber; ; pylorus; ; body of pancreas; ; thymus; ; superior surface of tongue; ; lactiferous duct; ; human penis; ; trachea;
	Top expressed in
	lip; ; spermatid; ; lens; ; thymus; ; cerebellar cortex; ; esophagus; ; seminal vesicula; ; duodenum; ; seminiferous tubule; ; left colon;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	membrane; integral component of membrane; protein-containing complex;
Biological process	positive regulation of neuron projection development;
	Sources:Amigo / QuickGO
Orthologs
	162427
	67998
	ENSG00000141699
	ENSMUSG00000017802
	Q86VR2
	Q9CQV4
	NM_178126
	NM_026501; NM_028933; NM_001361583
	NP_835227
	NP_080777; NP_083209; NP_001348512
	Wikidata
View/Edit Human	View/Edit Mouse

Protein FAM134C is a protein that in humans is encoded by the FAM134C (family with sequence similarity 134, member C) gene.^[5]

Model organisms

*Fam134c* knockout mouse phenotype
Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
General Observations	Abnormal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Abnormal^[6]
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Abnormal^[7]
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Eye Histopathology	Normal
Salmonella infection	Abnormal^[8]
All tests and analysis from^[9]^[10]

Model organisms have been used in the study of FAM134C function. A conditional knockout mouse line, called Fam134c^{tm2a(EUCOMM)Wtsi}^[11]^[12] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.^[13]^[14]^[15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[9]^[16] Twenty four tests were carried out on mutant mice and four significant abnormalities were observed.^[9] Homozygous animals had an abnormal xyphoid process and eye morphology.^[16] Females had increased indirect calorimetry parameters while males had an increased susceptibility to bacterial infection.^[9]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000141699 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000017802 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: family with sequence similarity 134, member C". Retrieved 2011-08-30.
^ "Indirect calorimetry data for Fam134c". Wellcome Trust Sanger Institute.
^ "Eye morphology data for Fam134c". Wellcome Trust Sanger Institute.
^ "Salmonella infection data for Fam134c". Wellcome Trust Sanger Institute.
^ ^a ^b ^c ^d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium".
^ "Mouse Genome Informatics".
^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
^ ^a ^b van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.{{cite journal}}: CS1 maint: unflagged free DOI (link)

Model organisms

References

Further reading