Gene Summary

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

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.

Phenotype System Allele Zyg Sex Life Stage P Value
absent vibrissae Frrs1ltm1b(EUCOMM)Hmgu HOM Early adult 7.92×10-05
abnormal locomotor behavior Frrs1ltm1b(EUCOMM)Hmgu HOM Early adult 6.47×10-11
preweaning lethality, incomplete penetrance Frrs1ltm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased prepulse inhibition Frrs1ltm1b(EUCOMM)Hmgu HOM   Early adult 3.13×10-05
limb grasping Frrs1ltm1b(EUCOMM)Hmgu HOM Early adult 1.03×10-14
decreased grip strength Frrs1ltm1b(EUCOMM)Hmgu HOM Early adult 3.52×10-05
abnormal gait Frrs1ltm1b(EUCOMM)Hmgu HOM Early adult 7.05×10-16
hyperactivity Frrs1ltm1b(EUCOMM)Hmgu HOM   Early adult 0.00
trunk curl Frrs1ltm1b(EUCOMM)Hmgu HOM Early adult 3.50×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
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
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
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)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 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)
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)
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)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 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 0.58% (3 of 515)
aorta 0.19% (1 of 518)
bone 0.0%
brain 0.77% (4 of 520)
brainstem 0.38% (2 of 524)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 522)
cerebral cortex 0.38% (2 of 525)
esophagus 1.9% (7 of 368)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 499)
hippocampus 0.59% (3 of 509)
hypothalamus 0.39% (2 of 511)
kidney 5.06% (26 of 514)
large intestine 5.39% (28 of 519)
liver 0.0%
lower urinary tract 0.0%
lung 0.38% (2 of 528)
lymph node 0.2% (1 of 510)
mammary gland 0.0%
olfactory lobe 0.39% (2 of 519)
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.4% (2 of 500)
parathyroid gland 0.0%
peripheral nervous system 0.19% (1 of 521)
peyers patch 0.0%
pituitary gland 0.19% (1 of 515)
prostate gland 1.98% (10 of 504)
skeletal muscle 0.0%
skin 0.0%
small intestine 5.07% (26 of 513)
spinal cord 0.4% (2 of 506)
spleen 0.58% (3 of 517)
stomach 3.2% (17 of 532)
striatum 0.58% (3 of 521)
testis 0.99% (5 of 505)
thymus 0.19% (1 of 529)
thyroid gland 2.89% (15 of 519)
trachea 0.58% (3 of 520)
uterus 0.38% (2 of 528)
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.

Adult LacZ

LacZ Images Wholemount

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

MicroCT E18.5

Embryo reconstruction

3 Images

Immunophenotyping

Panel A FCS file(s)

9 Images

Immunophenotyping

Panel B FCS file(s)

9 Images

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
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia ORPHA:88616
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Choreoathetosis OMIM:616981
Continuous Spikes And Waves During Sleep
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
Leg dystonia, Craniofacial dystonia, Writer's cramp, Difficulty walking, Generalized dystonia, Ar... OMIM:619565
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Gait disturbance, Tremor OMIM:618090
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Opisthotonus, Gait disturbance, Attention deficit hyperactivity ... ORPHA:216866
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Inability to walk, Blepharospasm, Tremor, Writer's cramp, To... OMIM:128100
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Ataxia, Hyperactivity, Dystonia OMIM:615924
Intellectual Developmental Disorder, X-Linked 104
Tremor, Frontal upsweep of hair, Hyperactivity, Ataxia OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Hyperactivity OMIM:619470
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity OMIM:617113
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Gait ataxia, Dystonia ORPHA:248111
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Dystonia OMIM:612716
Mohr-Tranebjaerg Syndrome
Tremor, Dystonia, Abnormal posturing OMIM:304700
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Hyperactivity, Dystonia, Athetosis ORPHA:382
Huntington Disease-Like 1
Gait disturbance, Gait ataxia, Dysmetria, Abnormal posturing ORPHA:157941
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Gait disturbance, Titubation, Gait ataxia, Dystonia, Abnormal posturing ORPHA:225147
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Hyperactivity, Resting tremor, Tremor, Shuffling gait ORPHA:3077
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Inability to walk, Hyperactivity OMIM:618718
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Tremor, ... ORPHA:228360
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hypopigmentation of hair, Hyperactivity ORPHA:411515
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Thick eyebrow, Unsteady gait OMIM:617865
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized hirsutism, Ataxia, Hyperactivity, Tremor, Gait ataxia, Limb dystonia ORPHA:363400
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Dystonia, Gait ataxia ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, Frontal balding, Tremor, Attention deficit hyperactivity disorder, Unstead... ORPHA:1942
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Unsteady gait OMIM:615516
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia ORPHA:88616
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, Hyperactivity, Hypopigmentation of hair, Tremor ORPHA:98794
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Dystonia, Athetosis ORPHA:52503
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Choreoathetosis OMIM:616981
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Dystonia OMIM:610217
Vici Syndrome
Albinism, Hypopigmentation of hair, Abnormal posturing OMIM:242840
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Thick eyebrow, Hyperactivity OMIM:620047
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Hyperactivity, Blepharospasm, Gait disturbance, Tremor, Choreoathetosis, Dystonia OMIM:234200
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Continuous Spikes And Waves During Sleep
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

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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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