Gene Summary

Name:
fascin actin-bundling protein 1
Synonyms:
Fan1,  fascin-1

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
abnormal behavior Fscn1tm1.1(KOMP)Vlcg HET Early adult 2.37×10-06
decreased thigmotaxis Fscn1tm1.1(KOMP)Vlcg HET Early adult 2.37×10-06
hyperactivity Fscn1tm1.1(KOMP)Vlcg HET Early adult 5.49×10-11
preweaning lethality, incomplete penetrance Fscn1tm1.1(KOMP)Vlcg HOM   Early adult 0.00

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (3 of 3)
Brain  Section images heterozygote 100% (3 of 3)
Brown adipose tissue  Section images heterozygote 100% (1 of 1)
Cerebellum  Section images heterozygote 33.33% (1 of 3)
Colon  Section images heterozygote 100% (1 of 1)
Diaphragm  Section images heterozygote 100% (1 of 1)
Epididymis  Section images heterozygote 100% (1 of 1)
Esophagus  Section images heterozygote 33.33% (1 of 3)
Eye  Section images heterozygote 100% (3 of 3)
Gonadal fat pad  Section images heterozygote 100% (1 of 1)
Heart  Section images heterozygote 66.67% (2 of 3)
Ileum  Section images heterozygote 100% (1 of 1)
Kidney  Section images heterozygote 100% (3 of 3)
Liver  Section images heterozygote 100% (3 of 3)
Lung  Section images heterozygote 33.33% (1 of 3)
Mesenteric adipose tissue  Section images heterozygote 100% (1 of 1)
Midbrain  Section images heterozygote 100% (1 of 1)
Olfactory lobe  Section images heterozygote 66.67% (2 of 3)
Pancreas  Section images heterozygote 100% (3 of 3)
Penis  Section images heterozygote 100% (1 of 1)
Peyer's patch  Section images heterozygote 66.67% (2 of 3)
Prostate gland  Section images heterozygote 66.67% (2 of 3)
Quadriceps  Section images heterozygote 100% (1 of 1)
Sciatic nerve  Section images heterozygote 100% (1 of 1)
Skin  Section images heterozygote 33.33% (1 of 3)
Spinal cord  Section images heterozygote 100% (3 of 3)
Spleen  Section images heterozygote 100% (3 of 3)
Testis  Section images heterozygote 33.33% (1 of 3)
Thymus  Section images heterozygote 66.67% (2 of 3)
Tongue  Section images heterozygote 100% (1 of 1)
Trigeminal V nerve  Section images heterozygote 100% (1 of 1)
White adipose tissue  Section images heterozygote 66.67% (2 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote 0.0% (0 of 1)
Bone N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cecum N/A heterozygote 66.67% (2 of 3)
Cerebral cortex N/A heterozygote 66.67% (2 of 3)
Chest bone N/A heterozygote Not available
Duodenum N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote Not available
Harderian gland N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote 0.0% (0 of 3)
Hypothalamus N/A heterozygote 0.0% (0 of 3)
Jejunum N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote 33.33% (1 of 3)
Lower urinary tract N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Parotid gland N/A heterozygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote 66.67% (2 of 3)
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote 66.67% (2 of 3)
Small intestine N/A heterozygote 33.33% (1 of 3)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote 0.0% (0 of 3)
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 66.67% (2 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 1)
Vascular system N/A heterozygote 0.0% (0 of 3)
Vesicular gland N/A heterozygote 0.0% (0 of 1)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 40% (2 of 5)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 40% (2 of 5)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 40% (2 of 5)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 40% (2 of 5)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 40% (2 of 5)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 40% (2 of 5)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 40% (2 of 5)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 40% (2 of 5)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 40% (2 of 5)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 40% (2 of 5)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 40% (2 of 5)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 40% (2 of 5)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 40% (2 of 5)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 40% (2 of 5)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 40% (2 of 5)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 40% (2 of 5)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 40% (2 of 5)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 40% (2 of 5)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 100% (5 of 5)
Chorioallantoic placenta N/A homozygote 100% (3 of 3)
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 40% (2 of 5)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 40% (2 of 5)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 40% (2 of 5)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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 Section

84 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Embryo LacZ

LacZ images wholemount

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Human diseases caused by Fscn1 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 Fscn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression, Attention deficit hyperactivity disorder OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Familial Alzheimer-Like Prion Disease
Depression, Anxiety, Attention deficit hyperactivity disorder, Emotional lability ORPHA:280397
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Death in childhood, Sil... OMIM:607624
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior OMIM:619970
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalus, Large basa... ORPHA:300570
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Glycine Encephalopathy
Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Abnormality of the anterior commissure, Agenesis of corpus callosum OMIM:617542
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Hypopigmentation of the skin, Sparse body hair, Diffuse palmoplantar hyperkeratosis, On... OMIM:617294
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Lissencephaly 4
Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephaly, Agenesis of corpus c... OMIM:614019
Hidrotic Ectodermal Dysplasia
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... ORPHA:189
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Cavum septum pellucidum, Microcephaly, Corti... ORPHA:300573
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder OMIM:619927
Coffin-Siris Syndrome 8
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior OMIM:239500
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Self-biting, Nail-biting, Attenti... OMIM:619827
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Sleep apnea, Small nail, Clinodactyly of the 5th finger, Microcephaly, Broad eyebrow, Syndactyly,... OMIM:616975
Lennox-Gastaut Syndrome
Personality disorder, Hyperactivity, Aggressive behavior ORPHA:2382
Chromosome 3Q29 Deletion Syndrome
Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... ORPHA:3077
Congenital Hydrocephalus
Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Lissencephaly, Ventriculomegaly... ORPHA:2185
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior OMIM:619467
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Small hand, Hypopigmentation of hair, Abnormal ulnar metaphysis mor... ORPHA:177910
Landau-Kleffner Syndrome
Impulsivity, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity disorder, Aggres... ORPHA:98818
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hyperextensibility of the finger joints, Hypermobility of toe joints, Abnormal lateral ventricle ... ORPHA:488635
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Decreased circulating total IgM OMIM:610798
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Cessation of head growth, Hypopigmentation of the skin, Hypopigmentation of hair, ... ORPHA:411515
Early-Onset Schizophrenia
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... ORPHA:96369
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior OMIM:619470
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Epiphyseal stippling OMIM:614870
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Death in childhood, Sil... OMIM:256710
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior ORPHA:101039
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Self-injurious behavior, Aggressive behavior ORPHA:382
Alg13-Cdg
Abnormal lateral ventricle morphology, Adducted thumb ORPHA:324422
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:271980
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Cerebral atrophy, Basal ganglia cysts, Microcephaly, Basal ganglia gliosi... ORPHA:79243
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:250972
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Rhizomelic arm shortening, Abno... ORPHA:397715
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Periventricular heterotopia, Thick eyebrow, Coxa valga, Colpocephaly, Microcephaly... OMIM:619833
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Asthma, Hypoplastic toenails, Dysplastic corpus callosum, Sparse scalp hai... ORPHA:544488
Slc35A2-Cdg
Talipes equinovarus, Cerebral atrophy, Hypopigmentation of the skin, Abnormality of the hand, Mic... ORPHA:356961
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Absent thumb, Partial duplication of thumb phalanx, Microcephaly, Absent radius, H... OMIM:227646
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Piebaldism
Heterochromia iridis, Microcephaly, Hypopigmentation of hair, White eyebrow, White eyelashes, Syn... ORPHA:2884
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Paroxysmal bursts of laughter OMIM:618718
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Nail dysplasia, Abnormality of hair texture, Hypopigmentation of ... OMIM:601957
Juvenile Huntington Disease
Depression, Hyperactivity, Irritability ORPHA:248111
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Fanconi Anemia, Complementation Group I
Absent thumb, Absent septum pellucidum, Hypoplasia of the radius, Short 1st metacarpal, Microceph... OMIM:609053
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Halperin-Birk Syndrome
Pseudobulbar paralysis, Talipes equinovarus, Death in childhood, Long eyelashes, Ventriculomegaly... OMIM:618651
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Weiss-Kruszka Syndrome
Clinodactyly of the 5th finger, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corp... OMIM:618619
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Talipes equinovarus, Hypoplasia of the corpus callosum ORPHA:401815
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly, Polymicrogyria, Small nail OMIM:618731
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Hypoplasia of the corpus callosum, Abnormal caudate nucleus morphology, Cerebral white matter atr... ORPHA:2148
Central Neurocytoma
Cerebral calcification, Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Hemiatrophy, Lateral ventricle dilatation, Cerebral cortical hemiatrophy ORPHA:306669
Severe X-Linked Intellectual Disability, Gustavson Type
Microcephaly, Congenital hip dislocation, Dilated fourth ventricle, Apneic episodes in infancy, L... ORPHA:3078
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Lateral ventricle dilatation, Thick cerebral cortex ORPHA:101071
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Spondyloenchondrodysplasia
Short distal phalanx of finger, Bowing of the legs, Metaphyseal dysplasia, Cerebral calcification... ORPHA:1855
Mosaic Trisomy 1
Toe syndactyly, Long toe, Hypoplastic thumbnail, Broad 2nd toe, 2-3 finger syndactyly, Arachnodac... ORPHA:1692
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Sparse lateral eyebrow, Colpocephaly, Agenesis of corpu... OMIM:619955
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse eyebrow, Hypoplasia of the corpus callosum, Single transverse palmar crease, Cavum septum ... ORPHA:464738
Autosomal Dominant Non-Syndromic Intellectual Disability
Leukoencephalopathy, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Abnormal ... ORPHA:178469
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Distal Monosomy 10Q
Hypoplastic toenails, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Prominent fin... ORPHA:96148
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cerebral cortical atr... ORPHA:488627
Fanconi Anemia, Complementation Group E
Absent thumb, Microcephaly, Short thumb, Hyperpigmentation of the skin, Complete duplication of t... OMIM:600901
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat... ORPHA:79326
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyr... ORPHA:261552
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly, Highly arched eyebrow, Abnormal hair pattern, Proximal... ORPHA:261250
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Bilateral talipes equinovarus, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, L... ORPHA:284417
Fanconi Anemia, Complementation Group A
Absent thumb, Microcephaly, Short thumb, Abnormality of skin pigmentation, Complete duplication o... OMIM:227650
Fanconi Anemia, Complementation Group C
Absent thumb, Microcephaly, Short thumb, Hyperpigmentation of the skin, Complete duplication of t... OMIM:227645
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Ventriculomegaly, Simplified... OMIM:615219
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Microcephaly, Corpus callosum atrophy, Hypoplasia of the corpus callosum, Promi... ORPHA:565624
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... ORPHA:449291
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Overlapping toe, Cerebral cortical atrophy, Clinodactyly of the 5th finger,... ORPHA:177907
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity OMIM:617600
X-Linked Adrenoleukodystrophy
Inappropriate sexual behavior, Hyperactivity, Attention deficit hyperactivity disorder, Disinhibi... ORPHA:43
Malan Overgrowth Syndrome
Slender long bone, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Ventriculomeg... ORPHA:420179
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Bilateral Generalized Polymicrogyria
Microcephaly, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Diffuse white matt... ORPHA:208447
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation ORPHA:77299
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Squalene Synthase Deficiency
Abnormality of hair pigmentation, 2-3 toe syndactyly, Polymicrogyria, Hypoplasia of the corpus ca... OMIM:618156
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Hypoplastic toenails, Hypertrichosis, Clinodactyly of the 5th finger, Supernum... ORPHA:477993
Bloom Syndrome
Decreased circulating IgA level, Hypertrichosis, Decreased circulating IgG level, Clinodactyly of... OMIM:210900
Cach Syndrome
Dysgyria, Cerebral atrophy, Microcephaly, Lateral ventricle dilatation, Dysphagia ORPHA:135
Cog5-Cdg
Joint contracture of the hand, Microcephaly, Camptodactyly of finger, Finger clinodactyly, Cerebr... ORPHA:263487
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Talipes equinovarus, Microcephaly, Respiratory insufficiency, Hypoplasia of the corpus callosum, ... OMIM:617260
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Cerebral atrophy, Dilated fourth ventricle, Lateral ventricle dilatation, Ab... ORPHA:572798
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Supernumerary nipple, Cavum sep... ORPHA:457279
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Periventricular heterotopia, Micromelia, Hypoplasia of the corpus callosum, Hammer... OMIM:270400
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior OMIM:610042
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Low anterior hairline, Gray matter heterotopia, Colpocephaly, Abnorm... ORPHA:75857
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly, Abnormal position of hair whorl ORPHA:85290
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Microcephaly, Pigmentary retinopathy, Clinodactyly, Dysphagia, Colpocephaly OMIM:618460
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Adducted thumb, Choroid plexus cyst, Deep palmar crease, Abnormal caudate nucleus morphology, Lat... ORPHA:293725
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Focal T2 ... ORPHA:2822
Histidinemia
Hyperactivity ORPHA:2157
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Absent septum pellucidum, Holoprosencephaly,... OMIM:618820
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Absent thumb, Secretory IgA deficiency, Hypoplasia of the corpus callosum, Polymi... ORPHA:500150
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Genitopatellar Syndrome
Sparse scalp hair, Periventricular heterotopia, Talipes equinovarus, Microcephaly, Congenital hip... OMIM:606170
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability OMIM:620047
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Broad hallux, Pneumonia, Hyperactivity, Polydactyly, Pilomatrixoma, Hip dysplasia, Obstructive sl... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Broad hallux, Pneumonia, Hyperactivity, Polydactyly, Pilomatrixoma, Hip dysplasia, Obstructive sl... ORPHA:353277
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Absent septum pellucidum, Microcephaly, Pigmentary retinopathy, Single transverse ... OMIM:309801
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Congenital Ptosis
Cafe-au-lait spot, Long eyelashes, Piebaldism ORPHA:91411
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Microcephaly, Septo-optic dysplasia, Semilobar holoprosencephaly, Colpo... OMIM:301043
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyr... ORPHA:261537
Choreoacanthocytosis
Small basal ganglia, Cerebral cortical atrophy, Frontal cortical atrophy, Hyperactivity, Caudate ... ORPHA:2388

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 Fscn1

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 Fscn1.

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

Title Journal IMPC Allele PubMed ID
Mouse T cell priming is enhanced by maturation-dependent stiffening of the dendritic cell cortex. eLife (July 2020) Fscn1tm1(KOMP)Vlcg PMC7417170

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MGI Allele Allele Type Produced
Fscn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Fscn1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fscn1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Fscn1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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