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Gene: Frrs1l MGI:2442704

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Gene Summary

Name:
ferric-chelate reductase 1 like
Synonyms:
6430704M03Rik

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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
abnormal locomotor behavior Frrs1ltm1b(EUCOMM)Hmgu HOM Early adult 4.60×10-11
trunk curl Frrs1ltm1b(EUCOMM)Hmgu HOM Early adult 3.49×10-06
hyperactivity Frrs1ltm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal gait Frrs1ltm1b(EUCOMM)Hmgu HOM Early adult 6.89×10-16
decreased grip strength Frrs1ltm1b(EUCOMM)Hmgu HOM Early adult 3.52×10-05
absent vibrissae Frrs1ltm1b(EUCOMM)Hmgu HOM Early adult 7.92×10-05
limb grasping Frrs1ltm1b(EUCOMM)Hmgu HOM Early adult 1.02×10-14
decreased prepulse inhibition Frrs1ltm1b(EUCOMM)Hmgu HOM   Early adult 3.13×10-05
preweaning lethality, incomplete penetrance Frrs1ltm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Skull Dorso Ventral Orientation

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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X-ray

XRay Images Whole Body Dorso Ventral

19 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

3 Images

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Adult LacZ

LacZ Images Wholemount

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

9 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

9 Images

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Human diseases caused by Frrs1l 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 Frrs1l by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Choreoathetosis OMIM:616981
Continuous Spikes And Waves During Sleep
Aggressive behavior, Dystonia ORPHA:725

The table below shows human diseases predicted to be associated to Frrs1l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Craniof... OMIM:619565
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Unsteady gait, Compulsive behaviors, Dystonia OMIM:301107
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Generalized dystonia, Abnormal posturing, Inability to walk, Opisthotonus, Attentio... ORPHA:216866
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Inability to walk, Tremor, Torticollis, ... OMIM:128100
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Hyperactivity OMIM:618090
Intellectual Developmental Disorder, X-Linked 104
Frontal upsweep of hair, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Mohr-Tranebjaerg Syndrome
Dystonia, Dysphagia, Abnormal posturing, Tremor OMIM:304700
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Tremor, Ataxia OMIM:615924
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:382
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Par... OMIM:618718
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Aggress... ORPHA:3077
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Tremor, Ataxia, Compulsive behaviors, Unsteady gait, Titubation OMIM:619405
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Abnormal posturing, Gait ataxia, Titubation, Gait disturbance, Dystonia, Dysphagia ORPHA:225147
Huntington Disease-Like 1
Abnormal posturing, Gait ataxia, Dysmetria, Gait disturbance, Restlessness ORPHA:157941
Juvenile Huntington Disease
Broad-based gait, Gait ataxia, Hyperactivity, Ataxia, Dystonia, Progressive cerebellar ataxia ORPHA:248111
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dystonia, Dysphagia, Impulsivity ORPHA:500180
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Premature graying of hair, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laug... OMIM:620445
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia, Hypopigmentation of ... ORPHA:411515
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait... ORPHA:98794
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:52503
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Gait ataxia, Dysmetria, Hyperactivity, Dystonia, Dysphagia, Intention tremor,... OMIM:610217
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Choreoathetosis OMIM:616981
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Choreoathetosis OMIM:612716
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Blepharospasm, Akinesia, Obsessive-compulsive trait, Tremor, Motor tics, Gait distur... OMIM:234200
Vici Syndrome
Albinism, Hypopigmentation of hair, Dysphagia, Abnormal posturing OMIM:242840
Unilateral Polymicrogyria
Abnormal posturing, Pseudobulbar paralysis ORPHA:268943
Continuous Spikes And Waves During Sleep
Aggressive behavior, Dystonia ORPHA:725

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 Frrs1l

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 Frrs1l.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
An ER Assembly Line of AMPA-Receptors Controls Excitatory Neurotransmission and Its Plasticity. Neuron (October 2019) Frrs1ltm1a(EUCOMM)Hmgu Frrs1ltm1b(EUCOMM)Hmgu 31604597
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
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
Frrs1ltm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Frrs1ltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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