Invs
Gene Detail

Symbol Name ID

Invs inversin MGI:1335082

Feature Type

protein coding gene

Genetic Map

Chromosome 4

26.11 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(7)

Sequence Map

Chr4:48279760-48431954 bp, + strand From VEGA annotation of GRCm38   152195 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:7786  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Invs

Human homologs

Human Homolog		INVS, inversin
NCBI Gene ID		27130
neXtProt AC		NX_Q9Y283
Human Synonyms		INV, NPH2, NPHP2
Human Chr (Location)		9q31; chr9:102861502-103063426 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human INVS

Alleles and phenotypes

All alleles(4) : Targeted(3) Transgenic(1)
 

Transgenic mice homozygous for an insertional mutation exhibit complete inversion of the L-R body axis, reversal of embryo turning, complex cardiac anomalies, an abnormally slow turbulent leftward nodal flow, and renal cyst formation. Most succumb to renal failure within 1 week of life.

 
Human Diseases Modeled Using Mouse Invs (2)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (15 annotations)

Process	embryonic heart tube left/right pattern formation, kidney development, ...
Component	cytoplasm, cytoskeleton, ...
Function	calmodulin binding, protein binding

External Resources: FuncBase

Expression

Literature Summary: (8 records)
Data Summary: Results (45)    Tissues (40)    Images (3)
Theiler Stages: 10, 12, 15, 18, 20, 23, 24, 26, 28

Assay Type	Results
RNA in situ	25
Northern blot	11
RT-PCR	9

cDNA source data(18)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(61) Genomic(34) cDNA(23) Primer pair(3) Other(1)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000006844 (Evidence)
Ensembl Gene Model	ENSMUSG00000028344 (Evidence)
Entrez Gene	16348 (Evidence)
DFCI	TC1582098, TC1597155, TC1599163, TC1632868
DoTS	DT.101161590, DT.101363414, DT.101363415, DT.531286, DT.91370001, DT.94388189
NIA Mouse Gene Index	U004303
Consensus CDS Project	CCDS18166.1
International Mouse Knockout Project Status	Invs

Sequences

Length	Strain/Species
genomic	OTTMUSG00000006844	VEGA Gene Model | MGI Sequence Detail	152195	C57BL/6J
transcript	OTTMUST00000015833	VEGA | MGI Sequence Detail	5633	Not Applicable
polypeptide	OTTMUSP00000007271	VEGA | MGI Sequence Detail	1062	Not Applicable

All sequences(47) RefSeq(2) UniProt(5)

Polymorphisms

RFLP(1) : SNPs(611 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002110	Ankyrin repeat
InterPro	IPR020683	Ankyrin repeat-containing domain
InterPro	IPR000048	IQ motif, EF-hand binding site
Protein Ontology	PR:000009079	inversin

References

(Earliest) J:4934 Yokoyama T, et al., Reversal of left-right asymmetry: a situs inversus mutation [see comments]. Science. 1993 Apr 30;260(5108):679-82
(Latest) J:186876 Sugiyama N, et al., The canonical Wnt signaling pathway is not involved in renal cyst development in the kidneys of inv mutant mice. Kidney Int. 2011 May;79(9):957-65
All references(67)

Other accession IDs

MGD-MRK-11438, MGI:2140271, MGI:2140572, MGI:96580