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
abnormal heart morphology Fzd5tm1.1(KOMP)Vlcg HET Early adult 0.00
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
small superior vagus ganglion Fzd5tm1.1(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% (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 100% (1 of 1)
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 100% (1 of 1)
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 100% (1 of 1)
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 0.72% (4 of 555)
aorta 0.18% (1 of 541)
blood 0.0%
bone marrow 0.0%
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cecum 5.65% (20 of 354)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
chest bone Unavailable
colon 16.8% (21 of 125)
diaphragm 0.0%
duodenum 3.08% (4 of 130)
epididymis 12.78% (17 of 133)
esophagus 1.8% (7 of 388)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.81% (1 of 124)
heart 0.37% (2 of 535)
hindlimb 0.0%
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
ileum 15.83% (19 of 120)
jejunum 9.09% (12 of 132)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.34% (1 of 294)
midbrain 0.0%
olfactory lobe 0.37% (2 of 543)
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.19% (1 of 526)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
stomach pyloric region 0.0%
striatum 0.56% (3 of 540)
sublingual gland 0.0%
submandibular gland 1.46% (2 of 137)
testis 1.09% (6 of 552)
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
tongue 3.82% (5 of 131)
trachea 0.56% (3 of 532)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.37% (2 of 535)
vagina 0.0%
vas deferens 4.49% (16 of 356)
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 2.38% (1 of 42)
brain 1.74% (6 of 344)
central nervous system ganglion 2.17% (1 of 46)
dorsal root ganglion 0.0%
ear 0.29% (1 of 341)
embryo 0.28% (1 of 353)
eye 0.0%
footplate 0.28% (1 of 358)
forebrain 0.29% (1 of 347)
forelimb 0.27% (1 of 376)
fronto-nasal process 2.13% (1 of 47)
gut 2.56% (1 of 39)
handplate 0.29% (1 of 348)
head 1.12% (4 of 357)
head mesenchyme 2.5% (1 of 40)
heart 0.27% (1 of 366)
hindbrain 0.57% (2 of 348)
hindlimb 0.29% (1 of 341)
intestine 2.33% (1 of 43)
liver 0.3% (1 of 338)
lung 0.29% (1 of 342)
mandibular process 0.29% (1 of 343)
maxillary process 0.29% (1 of 347)
meckel's cartilage 0.0%
metanephros 2.63% (1 of 38)
midbrain 0.28% (1 of 354)
nasal septum 2.13% (1 of 47)
nose 1.89% (1 of 53)
notochord 2.38% (1 of 42)
oral cavity 0.0%
pharynx 2.78% (1 of 36)
rib pre-cartilage condensation 2.44% (1 of 41)
skeleton 1.79% (1 of 56)
skin 0.29% (1 of 348)
spinal cord 0.0%
tail 0.28% (1 of 354)
tail somite group 0.3% (1 of 337)
thoracic vertebral cartilage condensation 2.44% (1 of 41)
tongue 2.38% (1 of 42)
trunk mesenchyme 2.86% (1 of 35)
umbilical artery embryonic part 0.0%
umbilical vein embryonic part 0.0%
vibrissa 0.0%

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E9.5

Embryo reconstruction

1 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
Microcornea, Coloboma OMIM:251505
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Coloboma OMIM:120433
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Coloboma OMIM:610023
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Iris coloboma, Chorio... ORPHA:231736
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Cardiomyopathy, Cardiomegaly ORPHA:85447
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Posterior s... OMIM:610256
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... OMIM:612965
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, Cardiomyopathy, Cardiomegaly OMIM:617713
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Abnormal autonomic nervous system physiology, Restric... ORPHA:85451
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... OMIM:273250
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Bilateral cryptorchidism, ... OMIM:618652
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... OMIM:614837
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Azoospermia, Cardi... OMIM:235200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... OMIM:105210
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary OMIM:300510
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Premature Ovarian Failure 7
Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis OMIM:612964
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:256550
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... OMIM:614841
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Unilateral cryptorchidism, Tetra... OMIM:618280
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly OMIM:239850
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:616897
Mogs-Cdg
Hydrocele testis, Absent brainstem auditory responses, Atrial septal defect, External genital hyp... ORPHA:79330
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cardiomyopathy, Ca... ORPHA:465508
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... OMIM:306955
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomyopathy, Cardiomegaly OMIM:619259
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... ORPHA:363705
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Brachial plexus neuropathy, Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... ORPHA:57777
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Abnormal heart morphology ORPHA:2237
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... ORPHA:83628
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Micropenis, Hypergonadotropic hypogonadism, Pulmonic stenosis... OMIM:602782
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... ORPHA:90793
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Hepatomegaly, Ventricular septal defect, Labial hypertrophy, Cryptorchidism, ... ORPHA:96191
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:1517
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Abnormal cardiac septum morphology, Tetralogy of Fallot ORPHA:3320
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... ORPHA:168558
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... ORPHA:289548
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Enlarged kidney OMIM:608836
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly ORPHA:308552
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Hepatomegaly, Cardiomegaly OMIM:618143
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:614921
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... OMIM:245600
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Beckwith-Wiedemann Syndrome
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Gonadoblastoma, Cryptorchidism, Overgrowth... OMIM:130650
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... OMIM:202010
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly ORPHA:228308
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Optic atrophy, Polycystic ovaries, Cardiomegaly ORPHA:137675
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Single ventricle OMIM:619879
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... ORPHA:3384
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hepatomegaly, Splenomegaly, Abnormal aortic valve morphology, O... ORPHA:581
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... ORPHA:1677
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... OMIM:258040
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Optic atrophy, Ambiguous genitalia, Abnormal scrota... ORPHA:284339
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Ogden Syndrome
Hydrocele testis, Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Enl... OMIM:300855
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Enlarged kidney, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:252500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:618278
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Aplasia of the vagina, Urethral atresia, Absent external genitalia OMIM:271520
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Bohring-Opitz Syndrome
Optic atrophy, Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... ORPHA:90794
Exstrophy-Epispadias Complex
Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Epi... ORPHA:322
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Okamoto Syndrome
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Splenomegal... ORPHA:2729
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Atrioventricular canal defect, Hepatosplenomegaly, Tetralogy of Fallot, Ven... OMIM:274000
Yunis-Varon Syndrome
Atrial septal defect, Micropenis, Hypospadias, Tetralogy of Fallot, Ventricular septal defect, Cl... ORPHA:3472
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly ORPHA:365
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia ORPHA:457284
Chromosome 17Q12 Deletion Syndrome
Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplasia of the vagina... OMIM:614527
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis ORPHA:51
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... ORPHA:75565
Beckwith-Wiedemann Syndrome
Hepatomegaly, Splenomegaly, Enlarged kidney, Visceromegaly, Gonadoblastoma, Cryptorchidism, Hyper... ORPHA:116
Williams Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Precocious puberty, Atrial septal defe... ORPHA:904
Liver Disease, Severe Congenital
Hydrocele testis, Atrial septal defect, Hepatomegaly, Splenomegaly, Hypospadias, Ventricular sept... OMIM:619991
Phocomelia, Schinzel Type
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis ORPHA:2879
Townes-Brocks Syndrome 1
Atrial septal defect, Bifid scrotum, Hypospadias, Bifid uterus, Rectoperineal fistula, Tetralogy ... OMIM:107480
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Bifid uterus, Ventricular septal defect, Complete atriov... OMIM:236680
Proteasome-Associated Autoinflammatory Syndrome 1
Epididymitis, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256040
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Neu-Laxova Syndrome 1
Bifid uterus, Ventricular septal defect, Patent foramen ovale, Transposition of the great arterie... OMIM:256520
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis OMIM:614083
Ehlers-Danlos Syndrome, Vascular Type
Uterine prolapse, Uterine rupture, Cystocele, Mitral valve prolapse, Cervical insufficiency, Cryp... OMIM:130050
Coffin-Siris Syndrome 1
Atrial septal defect, Hypospadias, Tetralogy of Fallot, Ventricular septal defect, Clitoral hyper... OMIM:135900
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Wolf-Hirschhorn Syndrome
Precocious puberty, Atrial septal defect, Hypospadias, Ventricular septal defect, Aplasia of the ... OMIM:194190
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... OMIM:182250
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Myocardial calcification, Cardiomegaly ORPHA:51608
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Hypospadias, Aplasia of the uterus, Cryptorchidism, Small scrotum OMIM:276820
Vascular Ehlers-Danlos Syndrome
Uterine prolapse, Cystocele, Uterine rupture, Hypospadias, Mitral valve prolapse, Abnormal heart ... ORPHA:286
Pallister-Killian Syndrome
Labial hypoplasia, Aortic valve stenosis, Atrial septal defect, Hypospadias, Ventricular septal d... OMIM:601803
Norrie Disease
Optic atrophy, Cryptorchidism, Uterine rupture ORPHA:649
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030

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.

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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

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