Gene: Pot1b MGI:1920086

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
protection of telomeres 1B
Synonyms:
2810458H16Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pot1b 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 Pot1b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Melanoma
Neoplasm of the pancreas, Neoplasm of the stomach ORPHA:618
Glioma Susceptibility 9
OMIM:616568
Melanoma, Cutaneous Malignant, Susceptibility To, 10
OMIM:615848

The table below shows human diseases predicted to be associated to Pot1b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Globozoospermia, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Male hypogonadism, Bilateral breast hypoplasia, Azoospermia, Oli... ORPHA:52901
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Testicular atrophy, Decreased fertility OMIM:313200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Mi... OMIM:308700
Dyskeratosis Congenita, Autosomal Recessive 2
Reticulated skin pigmentation, Testicular atrophy, Nail dystrophy OMIM:613987
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Micropenis, Dec... OMIM:308750
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Intestinal malrotation OMIM:601163
46,Xx Ovotesticular Disorder Of Sex Development
Cryptorchidism, Ambiguous genitalia, Abnormality of the uterus, Abnormal morphology of female int... ORPHA:2138
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Hepatocellular carcinoma, Impotence, Testicular atrophy, Hypogonadotropi... OMIM:235200
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
Myotonic Dystrophy 1
Hypogonadism, Dysphagia, Testicular atrophy, Cholelithiasis OMIM:160900
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Delayed puberty, Abnormal spermatogenesis ORPHA:90646
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hepatocellular carcinoma, Hypothyroidism, Testicul... ORPHA:465508
Diphallia
Cryptorchidism, Duplicated colon, Bifid scrotum, Abnormality of the gastrointestinal tract, Gastr... ORPHA:227
Wolfram Syndrome 1
Dysphagia, Hypothyroidism, Testicular atrophy, Diabetes insipidus, Diabetes mellitus OMIM:222300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Dysphagia, Primary amenorrhea, Testicular atrophy, Secondary amen... OMIM:157640
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Hypoplasia of the fallopian tube, Abnormal spermatogenesis, Str... ORPHA:3464
Lesch-Nyhan Syndrome
Dysphagia, Testicular atrophy OMIM:300322
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Abnormality of the Leydig cells, Hypospadias, Testicular atrophy, Cleft palate, H... ORPHA:3063
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Colon cancer, Hypergonadotropic hypogonadism, Endometrial ca... ORPHA:273
Ataxia-Telangiectasia
Female hypogonadism, Hypoplasia of the thymus, Delayed puberty, Diabetes mellitus, Abnormal sperm... OMIM:208900
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, T... ORPHA:64
Familial Melanoma
Neoplasm of the pancreas, Neoplasm of the stomach ORPHA:618
Glioma Susceptibility 9
OMIM:616568
Melanoma, Cutaneous Malignant, Susceptibility To, 10
OMIM:615848

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 Pot1b

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 Pot1b.

No publications found that use IMPC mice or data for Pot1b.

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MGI Allele Allele Type Produced
Pot1btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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