Gene Summary

Name:
frizzled class receptor 5
Synonyms:
Fz5,  5330434N09Rik

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
hydrometra Fzd5tm1.1(KOMP)Vlcg HET Early adult 0.00
enlarged heart Fzd5tm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, complete penetrance Fzd5tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal heart morphology Fzd5tm1.1(KOMP)Vlcg HET Early adult 0.00
small superior vagus ganglion Fzd5tm1.1(KOMP)Vlcg HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Adrenal gland  Section images heterozygote 100% (1 of 1)
Aorta  Section images heterozygote 100% (1 of 1)
Bone marrow  Section images heterozygote 100% (1 of 1)
Cecum  Section images heterozygote 100% (1 of 1)
Cerebellum  Section images heterozygote 100% (1 of 1)
Colon  Section images heterozygote 100% (1 of 1)
Duodenum  Section images heterozygote 100% (1 of 1)
Epididymis  Section images heterozygote 100% (1 of 1)
Esophagus  Section images heterozygote 100% (1 of 1)
Eye  Section images heterozygote 100% (1 of 1)
Harderian gland  Section images heterozygote 100% (1 of 1)
Ileum  Section images heterozygote 100% (1 of 1)
Jejunum  Section images heterozygote 100% (1 of 1)
Kidney  Section images heterozygote 100% (1 of 1)
Lung  Section images heterozygote 100% (1 of 1)
Midbrain  Section images heterozygote 100% (1 of 1)
Olfactory lobe  Section images heterozygote 100% (1 of 1)
Pancreas  Section images heterozygote 100% (1 of 1)
Parotid gland  Section images heterozygote 100% (1 of 1)
Penis  Section images heterozygote 100% (1 of 1)
Pituitary gland  Section images heterozygote 100% (1 of 1)
Quadriceps  Section images heterozygote 100% (1 of 1)
Skin  Section images heterozygote 100% (1 of 1)
Spinal cord  Section images heterozygote 0.0% (0 of 1)
Spleen  Section images heterozygote 100% (1 of 1)
Stomach  Section images heterozygote 100% (1 of 1)
Sublingual gland  Section images heterozygote 100% (1 of 1)
Submandibular gland  Section images heterozygote 100% (1 of 1)
Testis  Section images heterozygote 100% (1 of 1)
Thyroid gland  Section images heterozygote 100% (1 of 1)
Tongue  Section images heterozygote 100% (1 of 1)
Trachea  Section images heterozygote 100% (1 of 1)
Urinary bladder  Section images heterozygote 100% (1 of 1)
Vesicular gland  Section images heterozygote 100% (1 of 1)
Blood N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 1)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 1)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote Not available
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 85.71% (6 of 7)
Brain N/A heterozygote 100% (7 of 7)
Central nervous system ganglion N/A heterozygote 100% (7 of 7)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 7)
Ear N/A heterozygote 28.57% (2 of 7)
Embryo N/A heterozygote 100% (7 of 7)
Eye N/A heterozygote 100% (7 of 7)
Footplate N/A heterozygote 0.0% (0 of 7)
Forebrain N/A heterozygote 100% (7 of 7)
Forelimb N/A heterozygote 100% (7 of 7)
Fronto-nasal process N/A heterozygote 0.0% (0 of 7)
Gut N/A heterozygote 66.67% (2 of 3)
Handplate N/A heterozygote 0.0% (0 of 7)
Head mesenchyme N/A heterozygote 0.0% (0 of 7)
Head N/A heterozygote 14.29% (1 of 7)
Heart N/A heterozygote 0.0% (0 of 7)
Hindbrain N/A heterozygote 0.0% (0 of 7)
Hindlimb N/A heterozygote 100% (7 of 7)
Intestine N/A heterozygote 66.67% (2 of 3)
Liver N/A heterozygote 0.0% (0 of 7)
Lung N/A heterozygote 0.0% (0 of 7)
Mandibular process N/A heterozygote 0.0% (0 of 7)
Maxillary process N/A heterozygote 14.29% (1 of 7)
Meckel's cartilage N/A heterozygote 71.43% (5 of 7)
Metanephros N/A heterozygote 50% (3 of 6)
Midbrain N/A heterozygote 0.0% (0 of 7)
Nasal septum N/A heterozygote 0.0% (0 of 7)
Nose N/A heterozygote 0.0% (0 of 7)
Notochord N/A heterozygote 85.71% (6 of 7)
Oral cavity N/A heterozygote 85.71% (6 of 7)
Pharynx N/A heterozygote 50% (3 of 6)
Rib pre-cartilage condensation N/A heterozygote 0.0% (0 of 7)
Skeleton N/A heterozygote 100% (7 of 7)
Skin N/A heterozygote 0.0% (0 of 7)
Spinal cord N/A heterozygote 0.0% (0 of 7)
Tail somite N/A heterozygote 14.29% (1 of 7)
Tail N/A heterozygote 14.29% (1 of 7)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (7 of 7)
Tongue N/A heterozygote 0.0% (0 of 5)
Trunk mesenchyme N/A heterozygote 0.0% (0 of 7)
Umbilical artery embryonic part N/A heterozygote 100% (4 of 4)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 85.71% (6 of 7)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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 508)
central nervous system ganglion 1.37% (1 of 73)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
meckel's cartilage 0.0%
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
pharynx 1.79% (1 of 56)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
vibrissa 1.35% (1 of 74)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

84 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Fzd5 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 Fzd5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microcornea OMIM:251505
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Aniridia, Sclerocornea, Congenital aphakia, Peters anomaly, Post... OMIM:610256
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology ORPHA:85447
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Remnants of the hyaloid vascular sys... ORPHA:231736
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
46,Xy Sex Reversal 3
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... OMIM:612965
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis with female appearance, male, Testicular dysgenesis, Abnormal vagina morpholog... ORPHA:168563
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... OMIM:273250
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... ORPHA:860
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:612964
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... OMIM:115197
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... OMIM:300257
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... OMIM:614837
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Azoospermia, Hypogonadotropic hypogonadism, Cardiomegaly, Cardi... OMIM:235200
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Timothy Syndrome
Cardiomegaly, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Cardiac-Urogenital Syndrome
Dextrocardia, Ventricular septal defect, Aplasia of the uterus, Bifid scrotum, Dysplastic tricusp... OMIM:618280
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly OMIM:212140
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:617565
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Partial Androgen Insensitivity Syndrome
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... ORPHA:90797
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... ORPHA:325124
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy, Abnormal auto... OMIM:105210
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morphology, ... ORPHA:324410
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... OMIM:614841
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:612310
Premature Ovarian Failure 18
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619203
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619665
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly ORPHA:391428
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Hypospadias, Ventricular septal defect, Cardiomegaly, Micropenis OMIM:616897
Mogs-Cdg
Optic atrophy, Hepatomegaly, External genital hypoplasia, Absent brainstem auditory responses, Ca... ORPHA:79330
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... OMIM:306955
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Cardiomyopathy, Sp... ORPHA:465508
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy OMIM:261740
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Cardiomegaly, Atrial sept... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina OMIM:146255
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomegaly, Cardiomyopathy OMIM:619259
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... ORPHA:83628
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Cardiomegaly, Overriding aorta OMIM:617022
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Abnormal heart morphology, Uterus didelphys, Vaginal atresia, Septate vagina ORPHA:2237
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Brachial plexus neuropathy, Cardiomegaly ORPHA:268
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Sandhoff Disease
Orthostatic hypotension, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Azoospermia, Cardiomegaly, Pulmon... OMIM:602782
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... ORPHA:90793
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Cardiomegaly OMIM:114620
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ventricular septal defect, Histiocytoid cardiomyopathy, Chordee, Clitoral hypertroph... OMIM:309801
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Abnormal cardiac septum morphology ORPHA:3320
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Labial hypertrophy, Cryptorchidism, Precoc... ORPHA:96191
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:168558
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Enlarged kidney OMIM:608836
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Bifid uterus OMIM:617466
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:289548
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Cardiomegaly OMIM:618143
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:308552
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Cardiomegaly OMIM:614921
Beckwith-Wiedemann Syndrome
Hepatomegaly, Gonadoblastoma, Cardiomegaly, Cardiomyopathy, Overgrowth of external genitalia, Pan... OMIM:130650
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Polycystic ovaries, Hypoplasia of the vagina, Ambiguous genitalia, male, Micropenis,... ORPHA:90796
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... OMIM:202010
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... OMIM:245600
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy ORPHA:228308
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... ORPHA:980
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... ORPHA:3384
Histiocytoid Cardiomyopathy
Optic atrophy, Ventricular septal defect, Hepatomegaly, Polycystic ovaries, Cardiomegaly ORPHA:137675
Oeis Complex
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... OMIM:258040
Mucopolysaccharidosis Type 3
Optic atrophy, Hepatomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, ... ORPHA:581
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... ORPHA:1677
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252500
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal ... ORPHA:284339
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... ORPHA:95430
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Precocious puberty in females, Fused labia majora, Testicular adrenal rest... ORPHA:90794
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina OMIM:271520
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... ORPHA:99125
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl... ORPHA:94095
Bohring-Opitz Syndrome
Optic atrophy, Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Aplasia of the uterus, Hepatosplenomegaly, Atrial septal defect, Tetra... OMIM:274000
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Absent penis, Abnormal heart morphology, Bifid penis, Penoscrotal tr... ORPHA:322
Okamoto Syndrome
Ventricular septal defect, Primum atrial septal defect, Bifid uterus, Abnormal mitral valve morph... ORPHA:2729
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:215140
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Yunis-Varon Syndrome
Hypospadias, Hypoplastic labia majora, Ventricular septal defect, Cardiomegaly, Cardiomyopathy, C... ORPHA:3472
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Cryptorchidi... OMIM:614527
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Micropenis, Hepatosplenomegaly, Cardiomegaly ORPHA:51
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:365
Townes-Brocks Syndrome 1
Hypospadias, Urethral valve, Ventricular septal defect, Bifid scrotum, Bifid uterus, Rectovaginal... OMIM:107480
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... ORPHA:75565
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Gonadoblastoma, Cardiomegaly, Splenomegaly, Enlarged k... ORPHA:116
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Williams Syndrome
Hypertrophic cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal endocardi... ORPHA:904
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Hydrolethalus Syndrome 1
Hypospadias, Complete atrioventricular canal defect, Ventricular septal defect, Abnormal vagina m... OMIM:236680
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Epididymitis, Cardiomegaly, Splenomegaly OMIM:256040
Neu-Laxova Syndrome 1
Ventricular septal defect, Bifid uterus, Transposition of the great arteries, Cryptorchidism, Pat... OMIM:256520
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Mitral valve prolapse, Cervical insufficiency, Uterine prolapse, Cystocele, Cryp... OMIM:130050
Coffin-Siris Syndrome 1
Hypospadias, Ventricular septal defect, Aplasia of the uterus, Clitoral hypertrophy, Atrial septa... OMIM:135900
Limb-Mammary Syndrome
Aplasia of the ovary, Aplasia of the uterus ORPHA:69085
Rubinstein-Taybi Syndrome 1
Hypospadias, Ventricular septal defect, Aganglionic megacolon, Bifid uterus, Papillary cystadenom... OMIM:180849
Wolf-Hirschhorn Syndrome
Hypospadias, Ventricular septal defect, Aplasia of the uterus, Atrial septal defect, Cryptorchidi... OMIM:194190
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Aortic valve calcification... OMIM:182250
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Myocardial calcification, Cardiomegaly, Pericardial effusion ORPHA:51608
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Mitral valve prolapse, Uterine prolapse, Abnormal heart valve morph... ORPHA:286
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Aplasia of the uterus, Anteriorly displaced genitalia, Cryptorchidism OMIM:276820
Norrie Disease
Optic atrophy, Uterine rupture, Cryptorchidism ORPHA:649
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pallister-Killian Syndrome
Hypertrophic cardiomyopathy, Hypospadias, Ventricular septal defect, Hypoplastic labia majora, Ap... OMIM:601803

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 Fzd5

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 Fzd5.

No publications found that use IMPC mice or data for Fzd5.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Fzd5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Fzd5tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter