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Gene: Frrs1 MGI:108076

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Gene Summary

Name:
ferric-chelate reductase 1
Synonyms:
Sdfr2

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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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased food intake Frrs1tm1a(EUCOMM)Wtsi HET Early adult 7.27×10-05
preweaning lethality, incomplete penetrance Frrs1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating free fatty acids level Frrs1tm1a(EUCOMM)Wtsi HET Early adult 6.07×10-05

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Select physiological systems to view:
Viewing: all phenotypes
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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.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Legacy Phenotype Associated Images
Frrs1tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Frrs1tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Frrs1tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Frrs1tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Frrs1tm1a(EUCOMM)Wtsi
HET, Female, WTSI

View all 76 images

Frrs1tm1a(EUCOMM)Wtsi
abnormal tail morphology, kinked tail, WT, Female, WTSI
Frrs1tm1a(EUCOMM)Wtsi
HOM, Unsexed, WTSI
Frrs1tm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI

Human diseases caused by Frrs1 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 Frrs1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased circulating free fatty acid level ORPHA:293964
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... ORPHA:71212
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level OMIM:610768

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 Frrs1

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 Frrs1.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Frrs1tm1a(EUCOMM)Wtsi PMC7263671
An ER Assembly Line of AMPA-Receptors Controls Excitatory Neurotransmission and Its Plasticity. Neuron (October 2019) Frrs1ltm1a(EUCOMM)Hmgu Frrs1ltm1b(EUCOMM)Hmgu 31604597
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Frrs1tm1a(EUCOMM)Wtsi Frrs1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Frrs1tm1a(EUCOMM)Wtsi PMC6459510
Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities. Disease models & mechanisms (February 2019) Frrs1ltm1a(EUCOMM)Hmgu Frrs1ltm1b(EUCOMM)Hmgu PMC6398485
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Frrs1tm1a(EUCOMM)Wtsi PMC5827107
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. American journal of human genetics (May 2016) Frrs1ltm1b(EUCOMM)Hmgu PMC4908178

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
Frrs1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Frrs1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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