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Gene: Ranbp2 MGI:894323

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Gene Summary

Name:
RAN binding protein 2
Synonyms:
A430087B05Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
embryonic lethality prior to tooth bud stage Ranbp2tm1.1(KOMP)Vlcg HOM   E12.5 0.00
abnormal epididymis morphology Ranbp2tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal testis morphology Ranbp2tm1.1(KOMP)Vlcg HET Early adult 0.00
enlarged epididymis Ranbp2tm1.1(KOMP)Vlcg HET Early adult 0.00
embryonic lethality prior to organogenesis Ranbp2tm1.1(KOMP)Vlcg HOM   E9.5 0.00
preweaning lethality, complete penetrance Ranbp2tm1.1(KOMP)Vlcg HOM   Early adult 0.00
small testis Ranbp2tm1.1(KOMP)Vlcg HET Early adult 0.00

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Blood  Section images heterozygote 50% (1 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mesenteric adipose tissue  Section images heterozygote 100% (2 of 2)
Mesenteric lymph node  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 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)
Parathyroid gland  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 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)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
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% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary 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
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
Vagina 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 100% (2 of 2)
Brain N/A heterozygote 40% (2 of 5)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 40% (2 of 5)
Embryo N/A heterozygote 40% (2 of 5)
Eye N/A heterozygote 40% (2 of 5)
Footplate N/A heterozygote 40% (2 of 5)
Forebrain N/A heterozygote 40% (2 of 5)
Forelimb N/A heterozygote 40% (2 of 5)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 40% (2 of 5)
Head N/A heterozygote 40% (2 of 5)
Heart N/A heterozygote 40% (2 of 5)
Hindbrain N/A heterozygote 40% (2 of 5)
Hindlimb N/A heterozygote 40% (2 of 5)
Liver N/A heterozygote 40% (2 of 5)
Lung N/A heterozygote 40% (2 of 5)
Mandibular process N/A heterozygote 40% (2 of 5)
Maxillary process N/A heterozygote 40% (2 of 5)
Midbrain N/A heterozygote 40% (2 of 5)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 40% (2 of 5)
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 40% (2 of 5)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 40% (2 of 5)
Tail N/A heterozygote 40% (2 of 5)
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 0.0%
brain 1.36% (6 of 440)
central nervous system ganglion 0.0%
ear 0.0%
embryo 0.22% (1 of 458)
eye 0.22% (1 of 457)
footplate 0.21% (1 of 466)
forebrain 0.22% (1 of 455)
forelimb 0.22% (1 of 452)
gut 1.85% (1 of 54)
handplate 0.22% (1 of 460)
head 0.87% (4 of 461)
heart 0.22% (1 of 455)
hindbrain 1.08% (5 of 463)
hindlimb 0.0%
liver 0.22% (1 of 454)
lung 0.22% (1 of 453)
mandibular process 0.0%
maxillary process 0.22% (1 of 445)
midbrain 0.22% (1 of 458)
nose 1.45% (1 of 69)
oral cavity 0.22% (1 of 451)
placenta 15.38% (6 of 39)
skeleton 1.43% (1 of 70)
skin 0.22% (1 of 458)
spinal cord 1.59% (1 of 63)
tail 0.22% (1 of 465)
tail somite group 0.22% (1 of 455)
trachea 0.0%
urinary system 1.96% (1 of 51)

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

186 Images

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X-ray

XRay Images Hind Leg and Hip

8 Images

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Embryo LacZ

LacZ images wholemount

20 Images

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X-ray

XRay Images Forepaw

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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Human diseases caused by Ranbp2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ranbp2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Acute Necrotizing Encephalopathy
ORPHA:88619
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
OMIM:608033

The table below shows human diseases predicted to be associated to Ranbp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Breast carcinoma, Stomach cancer, Sarcoma OMIM:609265
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Melanoma-Pancreatic Cancer Syndrome
Melanoma, Pancreatic squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Pancreatic a... OMIM:606719
Tumor Predisposition Syndrome 1
Renal cell carcinoma, Cutaneous melanoma, Meningioma, Malignant mesothelioma, Uveal melanoma, Lun... OMIM:614327
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Hypogona... OMIM:614840
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype OMIM:305700
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo... OMIM:151623
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Lung Cancer
Alveolar cell carcinoma, Non-small cell lung carcinoma, Lung adenocarcinoma OMIM:211980
Desmoid Disease, Hereditary
Breast carcinoma, Desmoid tumors, Colon cancer, Colorectal polyposis OMIM:135290
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Spermatogenic Failure 30
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... ORPHA:983
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
46,Xx Testicular Difference Of Sex Development
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia ORPHA:393
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Microphallus, Testicular dysgenesis, A... OMIM:615542
Nut Midline Carcinoma
Neoplasm, Ewing sarcoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cel... ORPHA:443167
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Spermatogenic Failure 50
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Maffucci Syndrome
Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Hemangiomatosis, Breast carcin... ORPHA:163634
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno... ORPHA:1916
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Ollier Disease
Hemangioma, Neoplasm, Visceral angiomatosis, Multiple enchondromatosis, Chondrosarcoma, Sarcoma ORPHA:296
Pseudovaginal Perineoscrotal Hypospadias
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, male, Abnormality of the e... OMIM:264600
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ... ORPHA:753
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Mast Cell Sarcoma
Hepatomegaly, Sarcoma ORPHA:66661
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Neoplasm of the skin, Rhabdomyosarcoma, Sarcoma ORPHA:626
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Delayed puberty, Abnormal sperm morphology, Decreased testicular size, Testicular... ORPHA:52901
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Liposarcoma
Sarcoma ORPHA:69078
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Cryptorchidism, Ambiguous genitalia, Sex reversal OMIM:614279
46,Xx Sex Reversal 4
Penoscrotal hypospadias, Micropenis, Ambiguous genitalia, Retractile testis, Clitoral hypertrophy... OMIM:617480
Infantile Myofibromatosis
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Benign neoplasm of the cen... ORPHA:2591
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... ORPHA:247806
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Sarcoma ORPHA:69077
46,Xy Sex Reversal 10
Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G... OMIM:616425
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Neoplasm of the lung, Hepatomegaly, Ovarian neoplasm, Neoplasm of the c... ORPHA:83469
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Exostoses, Multiple, Type Ii
Rib exostoses, Pelvic bone exostoses, Scapular exostoses, Multiple exostoses, Chondrosarcoma OMIM:133701
Exostoses, Multiple, Type I
Rib exostoses, Pelvic bone exostoses, Scapular exostoses, Multiple exostoses, Chondrosarcoma OMIM:133700
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Male pseudohermaphroditism, Hyp... ORPHA:752
Leydig Cell Hypoplasia
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... ORPHA:755
Gardner Syndrome
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... ORPHA:79665
Familial Adenomatous Polyposis 1
Carcinoma, Adrenocortical adenoma, Colon cancer, Small intestine carcinoid, Multiple gastric poly... OMIM:175100
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Aplasia of the uterus, Primary amenorrh... OMIM:273250
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Bazex Syndrome
Lung adenocarcinoma, Neoplasm, Liposarcoma ORPHA:166113
Li-Fraumeni Syndrome
Acute lymphoblastic leukemia, Colorectal polyposis, Astrocytoma, Neoplasm of the central nervous ... ORPHA:524
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Yellow Nail Syndrome
Renal neoplasm, Neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Sarcoma ORPHA:662
Attenuated Familial Adenomatous Polyposis
Papilloma, Colorectal polyposis, Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Fibrom... ORPHA:220460
Gastrointestinal Stromal Tumor
Neoplasm of the rectum, Abnormality of the liver, Neoplasm of the stomach, Gastrointestinal strom... ORPHA:44890
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... OMIM:308700
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Werner Syndrome
Neoplasm, Melanoma, Cutaneous melanoma, Renal neoplasm, Squamous cell carcinoma, Meningioma, Brea... ORPHA:902
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Testicular Agenesis
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... ORPHA:325124
Desmoid Tumor
Fibroma, Desmoid tumors, Intestinal polyposis, Neoplasm of the skin ORPHA:873
Tetragametic Chimerism
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:199310
Familial Adenomatous Polyposis
Biliary tract obstruction, Adenocarcinoma of the small intestine, Colorectal polyposis, Astrocyto... ORPHA:733
Opsoclonus-Myoclonus Syndrome
Neoplasm, Melanoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Ovarian te... ORPHA:1183
Ovarian Fibrothecoma
Fibrosarcoma, Ovarian fibroma, Diffuse leiomyomatosis ORPHA:314478
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma OMIM:618913
Retinoblastoma
Lymphoma, Pinealoma, Ewing sarcoma, Leukemia, Osteosarcoma, Retinoblastoma OMIM:180200
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Neoplasm of the thyroid gland, Testicular neoplasm, Neoplasm of the breast, Sarcoma ORPHA:457059
Mastocytosis
Chronic leukemia, Hepatomegaly, Sarcoma, Acute leukemia ORPHA:98292
Legius Syndrome
Acute monocytic leukemia, Optic nerve glioma, Vestibular schwannoma, Non-small cell lung carcinom... ORPHA:137605
Cancer-Associated Retinopathy
Thymoma, Cutaneous melanoma, Small cell lung carcinoma, Malignant genitourinary tract tumor, Uter... ORPHA:71505
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Tuberous Sclerosis 2
Angiofibromas, Adenoma sebaceum, Optic nerve glioma, Chordoma, Renal angiomyolipoma, Renal cell c... OMIM:613254
46,Xy Sex Reversal 7
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... OMIM:233420
Retinoblastoma
Lymphoma, Melanoma, Ewing sarcoma, Glioma, Leukemia, Pineoblastoma, Leiomyosarcoma, Osteosarcoma,... ORPHA:790
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Asbestos Intoxication
Lung adenocarcinoma, Malignant mesothelioma ORPHA:2302
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Amenorrhea, Hypogonadotropic hypog... OMIM:235200
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Multiple Endocrine Neoplasia, Type Iv
Carcinoma, Pancreatic endocrine tumor, Renal angiomyolipoma, Carcinoid tumor, Pituitary adenoma, ... OMIM:610755
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Hepatosplenomegaly OMIM:619750
Monosomy 22
Hepatosplenomegaly, Meningioma, Schwannoma, Gonadal neoplasm, Sarcoma ORPHA:96123
Neurofibromatosis Type 1
Neoplasm, Spinal neurofibroma, Meningioma, Leukemia, Pheochromocytoma, Astrocytoma, Chronic myelo... ORPHA:636
Mody
Neonatal hypoglycemia, Overweight, Glycosuria, Abnormal oral glucose tolerance, Hyperglycemia, Tr... ORPHA:552
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Paraganglioma, Papillary cystadenoma of the epididymi... OMIM:193300
Turcot Syndrome With Polyposis
Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Basal cell carcinoma, Adenomatous coloni... ORPHA:99818
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Neoplasm, Cavernous hemangioma, Melanoma, Conjun... ORPHA:201
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocortical carcinoma ORPHA:1501
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Insulinoma, Cervix cancer, Angiofibromas,... ORPHA:276152
Aarskog-Scott Syndrome
Delayed puberty, Cryptorchidism, Shawl scrotum, Testicular atrophy, Elevated circulating follicle... OMIM:305400
Meige Disease
Angiosarcoma ORPHA:90186
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism OMIM:222300
Lymphedema-Distichiasis Syndrome
Fibrosarcoma ORPHA:33001
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypogonadotropic hypogo... ORPHA:465508
Fanconi Anemia, Complementation Group E
Leukemia, Prolonged G2 phase of cell cycle OMIM:600901
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Vulvar neoplasm, Uterine neoplasm, Fibroma, Vaginal neoplasm, Esophageal neoplasm, Diffuse leiomy... ORPHA:1018
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Diabetes mellitus, Hypoplasia of the uterus, Epididymal cyst, Bicornuate u... OMIM:137920
Fanconi Anemia, Complementation Group A
Leukemia, Prolonged G2 phase of cell cycle OMIM:227650
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Fibroma, Thyroid carcinoma, Pancreatic adenocarcinoma, Lipoma, Uterine leiomyoma... ORPHA:99880
Parathyroid Carcinoma
Renal hamartoma, Parathyroid carcinoma, Fibroma, Pancreatic adenocarcinoma, Thyroid carcinoma, Li... ORPHA:143
Dermatomyositis
Neoplasm, Breast carcinoma, Gastrointestinal stroma tumor, Lymphoma, Lung adenocarcinoma ORPHA:221
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... OMIM:157640
Fanconi Anemia, Complementation Group C
Leukemia, Prolonged G2 phase of cell cycle OMIM:227645
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Pancreatic endocrine tumor, Small intestine carcinoid, Pituitary corti... ORPHA:99889
Tuberous Sclerosis Complex
Angiofibromas, Renal cell carcinoma, Retinal astrocytic hamartoma, Pancreatic endocrine tumor, Re... ORPHA:805
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm of the pancreas, P... ORPHA:892
Aicardi Syndrome
Hemangioma, Carcinoma, Metastatic angiosarcoma, Hepatoblastoma, Lipoma, Teratoma OMIM:304050
Multiple Endocrine Neoplasia Type 1
Thymoma, Parathyroid carcinoma, Meningioma, Insulinoma, Multiple lipomas, Pituitary gonadotropic ... ORPHA:652
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Fanconi Anemia, Complementation Group D2
Leukemia, Prolonged G2 phase of cell cycle OMIM:227646
Sotos Syndrome
Hemangioma, Sacrococcygeal teratoma, Neoplasm, Small cell lung carcinoma, Acute lymphoblastic leu... ORPHA:821
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Floating-Harbor Syndrome
Cryptorchidism, Varicocele, Glandular hypospadias, Epididymal cyst, Hypospadias OMIM:136140
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Endometrial carcinoma, Decreased serum testost... ORPHA:273
Floating-Harbor Syndrome
Cryptorchidism, Varicocele, Epididymal cyst, Hypospadias, Precocious puberty ORPHA:2044
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hemangioma, Spinal neurofibroma, Optic nerve glioma, Ossifying fibroma, Subcutaneous neurofibroma... ORPHA:363700
Familial Acute Necrotizing Encephalopathy
ORPHA:88619
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
OMIM:608033

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 Ranbp2

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 Ranbp2.

No publications found that use IMPC mice or data for Ranbp2.

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.

MGI Allele Allele Type Produced
Ranbp2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ranbp2tm187953(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ranbp2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ranbp2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Ranbp2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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