Gene: Arhgef18 MGI:2142567
Log in to followPhenotypes
The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
abnormal retina morphology | Arhgef18tm1b(KOMP)Mbp | HET | Early adult | 6.15×10-17 | ||
increased circulating amylase level | Arhgef18tm1b(KOMP)Mbp | HET | Early adult | 7.83×10-05 | ||
preweaning lethality, complete penetrance | Arhgef18tm1b(KOMP)Mbp | HOM | Early adult | 0.00 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Brain | N/A | heterozygote | Ambiguous |
Brain | N/A | homozygote | Ambiguous |
Ear | N/A | heterozygote | Ambiguous |
Ear | N/A | homozygote | Ambiguous |
Embryo | N/A | heterozygote | Ambiguous |
Embryo | N/A | homozygote | Ambiguous |
Eye | N/A | heterozygote | Ambiguous |
Eye | N/A | homozygote | Ambiguous |
Footplate | N/A | heterozygote | Ambiguous |
Footplate | N/A | homozygote | Ambiguous |
Forebrain | N/A | heterozygote | Ambiguous |
Forebrain | N/A | homozygote | Ambiguous |
Forelimb | N/A | heterozygote | Ambiguous |
Forelimb | N/A | homozygote | Ambiguous |
Handplate | N/A | heterozygote | Ambiguous |
Handplate | N/A | homozygote | Ambiguous |
Head | N/A | heterozygote | Ambiguous |
Head | N/A | homozygote | Ambiguous |
Heart | N/A | heterozygote | Ambiguous |
Heart | N/A | homozygote | Ambiguous |
Hindbrain | N/A | heterozygote | Ambiguous |
Hindbrain | N/A | homozygote | Ambiguous |
Hindlimb | N/A | heterozygote | Ambiguous |
Hindlimb | N/A | homozygote | Ambiguous |
Liver | N/A | heterozygote | Ambiguous |
Liver | N/A | homozygote | Ambiguous |
Lung | N/A | heterozygote | Ambiguous |
Lung | N/A | homozygote | Ambiguous |
Mandibular process | N/A | heterozygote | Ambiguous |
Mandibular process | N/A | homozygote | Ambiguous |
Maxillary process | N/A | heterozygote | Ambiguous |
Maxillary process | N/A | homozygote | Ambiguous |
Midbrain | N/A | heterozygote | Ambiguous |
Midbrain | N/A | homozygote | Ambiguous |
Oral cavity | N/A | heterozygote | Ambiguous |
Oral cavity | N/A | homozygote | Ambiguous |
Skin | N/A | heterozygote | Ambiguous |
Skin | N/A | homozygote | Ambiguous |
Tail somite | N/A | heterozygote | Ambiguous |
Tail somite | N/A | homozygote | Ambiguous |
Tail | N/A | heterozygote | Ambiguous |
Tail | N/A | homozygote | Ambiguous |
Background staining occurs in wild type mice and embryos at an incidental rate.
Anatomy | Background staining in controls (WT) |
---|
Background staining occurs in wild type mice and embryos at an incidental rate.
Background staining occurs in wild type embryos at a measurable rate.
Anatomy | Background staining in controls(WT) |
---|---|
brain | 1.18% (6 of 510) |
ear | 0.2% (1 of 510) |
embryo | 0.39% (2 of 511) |
eye | 0.2% (1 of 510) |
footplate | 0.2% (1 of 510) |
forebrain | 0.2% (1 of 510) |
forelimb | 0.2% (1 of 510) |
handplate | 0.2% (1 of 510) |
head | 0.98% (5 of 510) |
heart | 0.2% (1 of 510) |
hindbrain | 1.18% (6 of 510) |
hindlimb | 0.2% (1 of 510) |
liver | 0.2% (1 of 505) |
lung | 0.2% (1 of 505) |
mandibular process | 0.2% (1 of 510) |
maxillary process | 0.2% (1 of 510) |
midbrain | 0.2% (1 of 510) |
oral cavity | 0.2% (1 of 505) |
skin | 0.2% (1 of 510) |
tail | 0.2% (1 of 510) |
tail somite group | 0.2% (1 of 510) |
Human diseases caused by Arhgef18 mutations
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Arhgef18 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Retinitis Pigmentosa | Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology | ORPHA:791 | |
Retinitis Pigmentosa 78 | Optic disc pallor, Cystoid macular edema | OMIM:617433 |
The table below shows human diseases predicted to be associated to Arhgef18 by phenotypic similarity.
IMPC related publications
The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Arhgef18.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
ARHGEF18/p114RhoGEF Coordinates PKA/CREB Signaling and Actomyosin Remodeling to Promote Trophoblast Cell-Cell Fusion During Placenta Morphogenesis. | Frontiers in cell and developmental biology (March 2021) | Arhgef18tm1a(KOMP)Mbp | PMC8027320 |
Order Mouse and ES Cells
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
This service may be affected by the Covid-19 pandemic. See how
MGI Allele | Allele Type | Produced |
---|---|---|
Arhgef18tm1b(KOMP)Mbp | Reporter-tagged deletion allele (with selection cassette) | Mice |
Arhgef18tm1e(KOMP)Mbp | Targeted, non-conditional allele | ES Cells |
Arhgef18tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice |
Arhgef18tm1a(KOMP)Mbp | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
The IMPC Newsletter
Get highlights of the most important data releases, news and events, delivered straight to your email inbox
Subscribe to newsletter