Gene Summary

Name:
RAN binding protein 2
Synonyms:
A430087B05Rik

IMPC Data Collections

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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
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 0.74% (4 of 537)
aorta 0.19% (1 of 528)
blood 0.0%
bone marrow 0.0%
brain 0.91% (5 of 547)
brainstem 0.37% (2 of 539)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 529)
cecum 5.11% (18 of 352)
cerebellum 0.37% (2 of 542)
cerebral cortex 0.37% (2 of 535)
chest bone Unavailable
colon 14.96% (19 of 127)
diaphragm 0.0%
duodenum 4% (5 of 125)
epididymis 13.64% (18 of 132)
esophagus 1.63% (6 of 367)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.78% (1 of 128)
heart 0.37% (2 of 546)
hindlimb 0.0%
hippocampus 0.56% (3 of 532)
hypothalamus 0.37% (2 of 535)
ileum 15.45% (19 of 123)
jejunum 8.33% (10 of 120)
kidney 4.3% (23 of 535)
large intestine 5.08% (27 of 532)
liver 0.0%
lower urinary tract 0.19% (1 of 532)
lung 0.37% (2 of 547)
lymph node 0.18% (1 of 544)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.35% (1 of 285)
midbrain 0.0%
olfactory lobe 0.37% (2 of 537)
ovary 0.19% (1 of 539)
oviduct 0.0%
pancreas 0.96% (5 of 522)
parathyroid gland 0.2% (1 of 508)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.19% (1 of 520)
peyers patch 0.0%
pituitary gland 0.19% (1 of 529)
prostate gland 2.23% (12 of 539)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 544)
small intestine 5.69% (31 of 545)
spinal cord 0.56% (3 of 534)
spleen 0.56% (3 of 531)
stomach 3.72% (20 of 537)
stomach pyloric region 0.0%
striatum 0.37% (2 of 535)
sublingual gland 0.0%
submandibular gland 1.54% (2 of 130)
testis 0.95% (5 of 524)
thymus 0.19% (1 of 535)
thyroid gland 3.22% (17 of 528)
tongue 3.97% (5 of 126)
trachea 0.55% (3 of 544)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.38% (2 of 527)
vagina 0.0%
vas deferens 4.26% (15 of 352)
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 1.72% (1 of 58)
brain 1.26% (6 of 477)
central nervous system ganglion 0.0%
ear 0.21% (1 of 480)
embryo 0.42% (2 of 479)
eye 0.21% (1 of 480)
footplate 0.21% (1 of 480)
forebrain 0.21% (1 of 468)
forelimb 0.21% (1 of 468)
gut 1.82% (1 of 55)
handplate 0.21% (1 of 475)
head 1.04% (5 of 479)
heart 0.21% (1 of 471)
hindbrain 1.27% (6 of 471)
hindlimb 0.21% (1 of 479)
liver 0.21% (1 of 474)
lung 0.22% (1 of 462)
mandibular process 0.21% (1 of 479)
maxillary process 0.21% (1 of 470)
midbrain 0.21% (1 of 471)
nose 1.39% (1 of 72)
oral cavity 0.21% (1 of 470)
placenta 17.07% (7 of 41)
skeleton 1.35% (1 of 74)
skin 0.0%
spinal cord 1.47% (1 of 68)
tail 0.21% (1 of 470)
tail somite group 0.0%
trachea 1.89% (1 of 53)
urinary system 1.75% (1 of 57)

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

X-ray

XRay Images Hind Leg and Hip

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Embryo LacZ

LacZ images wholemount

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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 Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... OMIM:615542
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype OMIM:305700
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma OMIM:135290
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... OMIM:146110
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... ORPHA:296
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Pseudovaginal Perineoscrotal Hypospadias
Abnormality of the endocrine system, Ambiguous genitalia, male, Micropenis, Bifid scrotum, Crypto... OMIM:264600
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... ORPHA:753
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... ORPHA:52901
Mast Cell Sarcoma
Sarcoma, Hepatomegaly ORPHA:66661
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size OMIM:614858
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin ORPHA:626
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... ORPHA:752
Liposarcoma
Sarcoma ORPHA:69078
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level, M... OMIM:202150
46,Xy Sex Reversal 8
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism OMIM:614279
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Infantile Myofibromatosis
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... ORPHA:2591
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Bilatera... ORPHA:457083
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... OMIM:616425
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism OMIM:614880
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Rhabdoid Tumor
Neoplasm of the central nervous system, Neoplasm of the liver, Sarcoma, Renal neoplasm ORPHA:69077
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous system,... ORPHA:83469
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Exostoses, Multiple, Type Ii
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133700
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Bazex Syndrome
Lung adenocarcinoma, Neoplasm, Liposarcoma ORPHA:166113
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Yellow Nail Syndrome
Neoplasm, Renal neoplasm, Neoplasm of the lung, Biliary tract neoplasm, Sarcoma ORPHA:662
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Werner Syndrome
Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... ORPHA:902
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Desmoid Tumor
Desmoid tumors, Intestinal polyposis, Neoplasm of the skin, Fibroma ORPHA:873
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Familial Adenomatous Polyposis
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... ORPHA:733
Opsoclonus-Myoclonus Syndrome
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... ORPHA:1183
Ovarian Fibrothecoma
Ovarian fibroma, Diffuse leiomyomatosis, Fibrosarcoma ORPHA:314478
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma OMIM:618913
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma OMIM:180200
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Testicular neoplasm, Sarcoma, Neoplasm of the breast, Neoplasm of the thyroid gland ORPHA:457059
Legius Syndrome
Ovarian neoplasm, Acute monocytic leukemia, Desmoid tumors, Nephroblastoma, Multiple lipomas, Ves... ORPHA:137605
Mastocytosis
Acute leukemia, Hepatomegaly, Sarcoma, Chronic leukemia ORPHA:98292
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... ORPHA:71505
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
Optic nerve glioma, Subependymal nodules, Subungual fibromas, Cortical tubers, Renal angiomyolipo... OMIM:613254
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... ORPHA:790
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Asbestos Intoxication
Lung adenocarcinoma, Malignant mesothelioma ORPHA:2302
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Histiocytoma, Osteosarcoma, Fibrosarcoma OMIM:112250
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Renal angiomyolipoma, Pancreatic endocri... OMIM:610755
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Hepatosplenomegaly OMIM:619750
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Monosomy 22
Hepatosplenomegaly, Meningioma, Schwannoma, Sarcoma, Gonadal neoplasm ORPHA:96123
Neurofibromatosis Type 1
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Pheochromocytoma, Multiple lipoma... ORPHA:636
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Pheochromocytoma, Paragangliom... OMIM:193300
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... ORPHA:552
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Cowden Syndrome
Papilloma, Neoplasm, Lipoma, Breast carcinoma, Neoplasm of the central nervous system, Melanoma, ... ORPHA:201
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocortical carcinoma ORPHA:1501
Turcot Syndrome With Polyposis
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... ORPHA:99818
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Meige Disease
Angiosarcoma ORPHA:90186
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Pituitary null cell adenoma, Pituitary adenoma, E... ORPHA:276152
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus OMIM:222300
Lymphedema-Distichiasis Syndrome
Fibrosarcoma ORPHA:33001
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Fanconi Anemia, Complementation Group E
Leukemia, Prolonged G2 phase of cell cycle OMIM:600901
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... OMIM:157640
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Maturi... OMIM:137920
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Fibroma, Tracheobronchial leiomyom... ORPHA:1018
Fanconi Anemia, Complementation Group A
Leukemia, Prolonged G2 phase of cell cycle OMIM:227650
Hyperparathyroidism-Jaw Tumor Syndrome
Lipoma, Thyroid carcinoma, Parathyroid adenoma, Nephroblastoma, Testicular neoplasm, Fibroma, Ren... ORPHA:99880
Dermatomyositis
Lung adenocarcinoma, Neoplasm, Breast carcinoma, Gastrointestinal stroma tumor, Lymphoma ORPHA:221
Parathyroid Carcinoma
Lipoma, Thyroid carcinoma, Parathyroid carcinoma, Nephroblastoma, Testicular neoplasm, Fibroma, R... ORPHA:143
Fanconi Anemia, Complementation Group C
Leukemia, Prolonged G2 phase of cell cycle OMIM:227645
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Tuberous Sclerosis Complex
Subependymal nodules, Pituitary adenoma, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P... ORPHA:805
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Paraganglioma, Elevated circul... ORPHA:892
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Atypical pulmonary carcinoid tumor, Prostate cancer, Neuroendocrine ... ORPHA:99889
Aicardi Syndrome
Lipoma, Hepatoblastoma, Teratoma, Hemangioma, Metastatic angiosarcoma, Carcinoma OMIM:304050
Multiple Endocrine Neoplasia Type 1
Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, Pituitary prolactin cell ad... ORPHA:652
Fanconi Anemia, Complementation Group D2
Leukemia, Prolonged G2 phase of cell cycle OMIM:227646
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Sotos Syndrome
Neoplasm, Neuroblastoma, Hemangioma, Small cell lung carcinoma, Cholesteatoma, Sacrococcygeal ter... ORPHA:821
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Varicocele, Congenital posterior urethral valve, Cryptorchidi... OMIM:136140
Floating-Harbor Syndrome
Precocious puberty, Hypospadias, Varicocele, Congenital posterior urethral valve, Cryptorchidism,... ORPHA:2044
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... ORPHA:273
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Optic nerve glioma, Hemangioma, Subcutaneous neurofibromas, Ossifying fibroma, Lisch nodules, Neu... 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.

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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(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Ranbp2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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