Gene Summary

Name:
fibronectin type III domain containing 3B
Synonyms:
1600019O04Rik,  fad104

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 eye morphology Fndc3btm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal coat/hair pigmentation Fndc3btm1.1(KOMP)Vlcg HET Early adult 2.47×10-09
increased heart weight Fndc3btm1.1(KOMP)Vlcg HET Early adult 1.95×10-06
preweaning lethality, complete penetrance Fndc3btm1.1(KOMP)Vlcg HOM   Early adult 0.00
urinary bladder obstruction Fndc3btm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal heart morphology Fndc3btm1.1(KOMP)Vlcg HET Early adult 0.00
enlarged heart Fndc3btm1.1(KOMP)Vlcg HET 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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Submandibular gland 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)
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

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 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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 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 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
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.

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Adult LacZ

LacZ Images Section

113 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Human diseases caused by Fndc3b 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 Fndc3b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
White Forelock With Malformations
White forelock, Poliosis, Atrial septal defect OMIM:277740
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... OMIM:607624
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair, Abnormal heart morphology ORPHA:1067
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair OMIM:613576
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... OMIM:620135
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Hypospadias, Generalized hyperpigmentation ORPHA:1355
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Attrv30M Amyloidosis
Cardiomegaly, Nephropathy, Abnormal renal physiology, Cardiomyopathy ORPHA:85447
Mucopolysaccharidosis, Type Iiib
Synophrys, Asymmetric septal hypertrophy, Hirsutism, Hepatomegaly, Coarse hair, Cardiomegaly, Spl... OMIM:252920
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Nephrotic syndrome, Fair hair, Hepatomegaly, Cardiomegaly, Splenome... OMIM:269920
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia OMIM:257100
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Long eyelashes, Synophrys, Hepatomegaly OMIM:619064
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Familial Atrial Myxoma
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma ORPHA:615
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... ORPHA:897
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Abnormality of retinal pigmentation ORPHA:858
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:277580
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Naxos Disease
Sparse body hair, Sparse eyebrow, Curly hair, Right ventricular cardiomyopathy, Abnormal morpholo... OMIM:601214
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Bicuspid aortic valve, Long eyela... OMIM:239850
Hemochromatosis, Type 1
Alopecia, Hyperpigmentation of the skin, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:235200
Timothy Syndrome
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect OMIM:601005
Waardenburg Syndrome Type 1
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... ORPHA:894
Mulibrey Nanism
Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pigmentary retinopathy OMIM:253250
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Hepat... OMIM:256550
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Carney Complex, Type 1
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Cardiac myxoma, Hirsutism, Red hair OMIM:160980
Fixed Subaortic Stenosis
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... ORPHA:3092
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Reduced renal corticomedullary differentiation, ... OMIM:618541
Griscelli Syndrome Type 2
Premature graying of hair, Iris hypopigmentation, Hypopigmentation of hair, Hepatomegaly, Partial... ORPHA:79477
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect OMIM:618652
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatomegaly, Car... OMIM:212140
Lethal Acantholytic Erosive Disorder
Absent hair, Absent eyelashes, Absent toenail, Absent fingernail, Absent eyebrow, Congenital alop... ORPHA:158687
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Hypopigmentation of hair, Abnormal heart morphology ORPHA:70472
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertrophic cardi... ORPHA:85451
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... ORPHA:3437
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... OMIM:203300
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... OMIM:115197
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Cantú Syndrome
Long eyelashes, Hypertrophic cardiomyopathy, Low posterior hairline, Curly eyelashes, Cardiomegal... ORPHA:1517
Coronary Arterial Fistula
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... ORPHA:2041
Refsum Disease, Classic
Cardiomegaly, Abnormal renal physiology, Cardiomyopathy OMIM:266500
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Hepatomegaly OMIM:255120
Craniofaciofrontodigital Syndrome
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Sac... ORPHA:363705
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiomegaly, Right atrial enlargement OMIM:614473
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... ORPHA:255249
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair ORPHA:2221
Mogs-Cdg
Alopecia, Fair hair, Left ventricular hypertrophy, Long eyelashes, Atrial septal defect, Hepatosp... ORPHA:79330
Oculocutaneous Albinism Type 1
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... ORPHA:352731
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... ORPHA:439
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Dicarboxylic aciduria, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid ORPHA:42
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Aorta Coarctation
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... ORPHA:1457
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatomegaly,... OMIM:201475
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Bicuspid aortic valve, Hypospadias OMIM:618156
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... OMIM:231005
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Glomerulonephritis, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... ORPHA:324410
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypospadias, Cardiomegaly, Micropenis, Hy... OMIM:616897
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Pseudo-Torch Syndrome 3
Acute kidney injury, Cardiomegaly, Proteinuria OMIM:618886
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... OMIM:306955
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Fucosidosis
Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Abnormality of the nail ORPHA:349
Syndromic Diarrhea
Cafe-au-lait spot, Ventricular septal defect, Generalized hypopigmentation, Trichorrhexis nodosa,... ORPHA:84064
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Hypospadias, Blue irides OMIM:614613
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal concentration of acylcarnitine in the urine ORPHA:391428
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Symptomatic Form Of Hemochromatosis Type 1
Generalized bronze hyperpigmentation, Hyperpigmentation of the skin, Hepatomegaly, Cardiomegaly, ... ORPHA:465508
Brittle Cornea Syndrome 1
Red hair, Mitral valve prolapse OMIM:229200
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... ORPHA:999
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... ORPHA:3440
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato... OMIM:602782
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... ORPHA:228308
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Sickle Cell Disease
Hematuria, Hepatomegaly, Cardiomegaly, Renal insufficiency, Splenomegaly OMIM:603903
Koolen-De Vries Syndrome
Vesicoureteral reflux, Abnormal cardiac septum morphology, Bicuspid aortic valve, Hypopigmentatio... ORPHA:96169
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoplastic toenails, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxylic acidu... OMIM:608836
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... OMIM:203100
Danon Disease
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... OMIM:300257
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... ORPHA:1329
Cirrhotic Cardiomyopathy
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... ORPHA:57777
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy OMIM:619259
Fucosidosis
Glycopeptiduria, Hepatomegaly, Oligosacchariduria, Cardiomegaly, Thick eyebrow, Splenomegaly OMIM:230000
Sandhoff Disease
Urinary incontinence, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Oligosacchariduria, Hepatomegaly, Card... ORPHA:308552
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Hirsutism, Synophrys, Low posterior hairline ORPHA:2463
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... ORPHA:3214
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Thick hair, Abnormal mitral valve morphology, Synophrys, Abnormal aortic ... ORPHA:581
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy, Pollakisuria ORPHA:268
Glycogen Storage Disease Of Heart, Lethal Congenital
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... OMIM:261740
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Hydronephrosis OMIM:614921
Chediak-Higashi Syndrome
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Iris hypopigment... OMIM:214500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... ORPHA:238468
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Hermansky-Pudlak Syndrome
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye... ORPHA:79430
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613266
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Generalized h... ORPHA:3322
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Mitral valve prolapse, Pulmonic stenosis ORPHA:90354
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Splenomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:608013
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Hypopigmentation of the skin, Brittle hair, Enlarged kidney, Hypertrophic cardiom... OMIM:252500
Glycogen Storage Disease Ii
Urinary incontinence, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Highly arched eyebrow, Hepatomegaly OMIM:618143
Vici Syndrome
Hypopigmentation of the skin, Penile hypospadias, Ocular albinism, Albinism, Left ventricular hyp... OMIM:242840
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Hypopigmentat... ORPHA:163746
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Beckwith-Wiedemann Syndrome
Vesicoureteral reflux, Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcinosis, Enlarged k... OMIM:130650
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... ORPHA:95430
Truncus Arteriosus
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... ORPHA:3384
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... ORPHA:1677
Bohring-Opitz Syndrome
Urinary retention, Abnormal cardiac septum morphology, Synophrys, Cardiomegaly, Hypertrichosis ORPHA:97297
Paternal Uniparental Disomy Of Chromosome 6
Hypoplastic fingernail, Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:96191
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
Degcags Syndrome
Premature graying of hair, Synophrys, Hepatosplenomegaly, Abnormal eyelash morphology, Hepatomega... OMIM:619488
Chédiak-Higashi Syndrome
Hypopigmentation of the skin, Pericardial effusion, Iris hypopigmentation, Large clumps of pigmen... ORPHA:167
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Prader-Willi Syndrome Due To Translocation
Patent foramen ovale, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of ha... ORPHA:177907
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Micropenis, Atrial septal defect ORPHA:398069
Ogden Syndrome
Patent foramen ovale, Sparse eyebrow, Ventricular septal defect, Perimembranous ventricular septa... OMIM:300855
Cystinosis, Nephropathic
Pigmentary retinopathy, Aminoaciduria, Hypopigmentation of the skin, Stage 5 chronic kidney disea... OMIM:219800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Histiocytoid Cardiomyopathy
Renal cyst, Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:137675
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:618278
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... ORPHA:99125
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... OMIM:300967
Beckwith-Wiedemann Syndrome
Vesicoureteral reflux, Congenital megaureter, Melanocytic nevus, Enlarged kidney, Hypertrophic ca... ORPHA:116
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Ureteral stenosis, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Oligosacchariduria, Hepatomegaly, Card... ORPHA:365
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly, Abnormality of retinal pigmentation ORPHA:14
Yunis-Varon Syndrome
Sparse eyebrow, Aplasia/Hypoplasia of the nails, Sparse scalp hair, Ventricular septal defect, At... ORPHA:3472
Prader-Willi Syndrome
Hypopigmentation of the skin, Generalized hypopigmentation, Frontal upsweep of hair, Iris hypopig... OMIM:176270
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Micropenis ORPHA:398079
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Sparse axillary hair, Hyperpigmentation of the skin, Hypertrichosis, H... OMIM:256040
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, Multicystic kidney dysplasia, Ventricular septal defect, Hypoplasi... ORPHA:818
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Patent foramen ovale, Aminoaciduria, Dilatation of the ventricular c... OMIM:619991
Williams Syndrome
Abnormal cardiac septum morphology, Hypertrophic cardiomyopathy, Blue irides, Nephrolithiasis, Ve... ORPHA:904
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis, Hepatosplenomegaly ORPHA:51
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair ORPHA:1974
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... ORPHA:75565
Menkes Disease
Hypopigmentation of hair, Bladder diverticulum, Sparse hair, Woolly hair ORPHA:565
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177901
Prader-Willi-Like Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398073
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, High anterior hairline, Onycholysis, Aortic valve stenosis, Cardiome... OMIM:182250
Acrodysostosis With Multiple Hormone Resistance
Low urinary cyclic AMP response to PTH administration, Fair hair, Hypospadias, Blue irides, Red hair ORPHA:280651
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Nephrocalcinosis, Hyperphosphaturia, Cortical neph... ORPHA:51608

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 Fndc3b

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 Fndc3b.

No publications found that use IMPC mice or data for Fndc3b.

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MGI Allele Allele Type Produced
Fndc3btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Fndc3btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fndc3btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Fndc3btm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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