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Gene: Fbxl12 MGI:1354738

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
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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
Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Abnormal placenta m... ORPHA:439167
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Short stature, Postnatal growth retardation, Severe postnatal growth retardation, ... ORPHA:73272
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Attention deficit hyperactivity disorder, Small placenta, Intrauter... ORPHA:397590
Silver-Russell Syndrome Due To 11P15 Microduplication
Decreased fetal movement, Short stature, Postnatal growth retardation, Umbilical hernia, Severe i... 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
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hernia, Intrauterine grow... ORPHA:254528
Neu-Laxova Syndrome 1
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Stillbirth, Shor... OMIM:256520
Kagami-Ogata Syndrome
Premature birth, Polyhydramnios, Postnatal growth retardation, Large placenta, Dysphagia ORPHA:254519
Restrictive Dermopathy
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... ORPHA:1662
Greenberg Dysplasia
Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Inc... OMIM:215140
Mosaic Trisomy 16
Intrauterine growth retardation, Single umbilical artery, Premature birth, Large placenta ORPHA:1708
Trichohepatoenteric Syndrome 1
Short stature, Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord, Intra... OMIM:222470
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... OMIM:275210
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Breech presentation, Anencephaly, Single umbilical arter... OMIM:249000
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short stature, Premature birth, Polyhydramnios, Postnatal growth retardation, Large placenta, Spi... ORPHA:96334
Beckwith-Wiedemann Syndrome
Premature birth, Polyhydramnios, Large placenta, Subchorionic septal cyst, 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

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.

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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