Gene Summary

Name:
F-box and leucine-rich repeat protein 12
Synonyms:
3110048D16Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Fbxl12 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fbxl12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Placental Insufficiency
Eclampsia, Preeclampsia, Intrauterine growth retardation, Maternal hypertension, Proportionate sh... ORPHA:439167
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Intrauterine growth retardation, Severe postnatal growth ... ORPHA:73272
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Postnatal growth retardation, Intrauterine growth retardation, Small placenta ORPHA:397590
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Intrauterine growth retardation, Short stature, Decreased... ORPHA:231144
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Intrauterine growth retardation, Fetal akinesia sequence, Premature birth, ... OMIM:208150
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Intrauterine growth retardation, Polyhydramnios, Postnatal growth retardation, Large placenta, Um... ORPHA:254528
Neu-Laxova Syndrome 1
Short umbilical cord, Intrauterine growth retardation, Decreased fetal movement, Stillbirth, Smal... OMIM:256520
Kagami-Ogata Syndrome
Dysphagia, Premature birth, Polyhydramnios, Postnatal growth retardation, Large placenta ORPHA:254519
Restrictive Dermopathy
Short umbilical cord, Intrauterine growth retardation, Premature delivery because of cervical ins... ORPHA:1662
Mosaic Trisomy 16
Maternal diabetes, Preeclampsia, Intrauterine growth retardation, Premature birth, Single umbilic... ORPHA:1708
Trichohepatoenteric Syndrome 1
Intrauterine growth retardation, Short stature, Polyhydramnios, Abnormalities of placenta or umbi... OMIM:222470
Restrictive Dermopathy 1
Short umbilical cord, Intrauterine growth retardation, Premature rupture of membranes, Premature ... OMIM:275210
Meckel Syndrome, Type 1
Intrauterine growth retardation, Breech presentation, Single umbilical artery, Oligohydramnios, L... OMIM:249000
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Intrauterine growth retardation, Growth delay, Short stature, Premature birth, Spontaneous aborti... ORPHA:96334
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Premature birth, Polyhydramnios, Large placenta, Umbilical hernia ORPHA:116

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fbxl12

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 Fbxl12.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Notch and the pre-TCR coordinate thymocyte proliferation by induction of the SCF subunits Fbxl1 and Fbxl12. Nature immunology (August 2019) Fbxl12tm1a(KOMP)Wtsi PMC6754294

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MGI Allele Allele Type Produced
Fbxl12tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Fbxl12tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fbxl12em2(IMPC)Marc Deletion Mice

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