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Gene: Foxr1 MGI:2685961

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Gene Summary

Name:
forkhead box R1
Synonyms:
Foxn5,  LOC382074

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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
small spleen Foxr1em1(IMPC)Tcp HET Late adult 0.00
preweaning lethality, incomplete penetrance Foxr1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal seminal vesicle morphology Foxr1em1(IMPC)Tcp HET Late adult 0.00
enlarged urinary bladder Foxr1em1(IMPC)Tcp HET Late adult 0.00
small ovary Foxr1em1(IMPC)Tcp HET Late adult 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Eye Morphology

Images Ophthalmoscopy

159 Images

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Histopathology

Images

18 Images

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Eye Morphology

Images Slit Lamp

162 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

116 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Morphology Embryo E18.5

Images

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Histopathology

Images

5 Images

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Electrocardiogram (ECG)

Waveform Image

3 Images

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Human diseases caused by Foxr1 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 Foxr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... OMIM:614841
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619834
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
Premature Ovarian Failure 10
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... OMIM:612885
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Renal insufficiency, Abnormality of the uterus, Hypospadias, Nephropathy, Cryptor... OMIM:194072
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... OMIM:612310
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... ORPHA:168563
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Frasier Syndrome
Gonadoblastoma, Renal insufficiency, Decreased serum estradiol, Nephrotic syndrome, Ambiguous gen... ORPHA:347
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased proportion of CD4-positive helper T cells, Decrea... ORPHA:66628
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased proportion of CD4-positive helper T cells, Decreased serum estradiol,... ORPHA:179494
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular size, Absence of secon... ORPHA:432
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... ORPHA:243
Bardet-Biedl Syndrome
Hepatic fibrosis, Multicystic kidney dysplasia, Hypogonadism, Nephrotic syndrome, Hypoplasia of p... ORPHA:110
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... ORPHA:2235
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete... ORPHA:3130
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Impotence, Decreased serum estradiol, Aplasia of the ovary, Absenc... ORPHA:2232
Mirage Syndrome
Leukopenia, Anemia, Shawl scrotum, Adrenal insufficiency, Decreased testicular size, Microphallus... OMIM:617053
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Micropenis OMIM:602361
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Microphthalmia, Syndromic 9
Hydronephrosis, Bicornuate uterus, Multilobulated spleen, Pelvic kidney, Horseshoe kidney, Crypto... OMIM:601186
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Hematuria, Thrombocytopenia, Hypoplastic spleen OMIM:185070
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Streak ovary,... ORPHA:572333
Leopard Syndrome 1
Aplasia of the ovary, Unilateral renal agenesis, Hypoplasia of the ovary, Delayed puberty, Hyposp... OMIM:151100
Pearson Syndrome
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Lacticaciduria, Hepatic steatosis, Hypopa... ORPHA:699
Alg9-Cdg
Periportal fibrosis, Bicornuate uterus, Enlarged kidney, Ureteral hypoplasia, Hypoplasia of the o... ORPHA:79328
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Hypospadias, Gonadal dysgenesis, Cryptorchidism, Streak ovary, Uterus d... OMIM:618820
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Hepatic steatosis, Hypoplasia of the ovary, Leukocytosis, Renal hypopl... OMIM:619321
Schinzel-Giedion Syndrome
Central hypothyroidism, Myeloid leukemia, Hepatoblastoma, Renal cyst, Hypospadias, Abnormality of... ORPHA:798

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 Foxr1

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 Foxr1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
FOXR1 regulates stress response pathways and is necessary for proper brain development. PLoS genetics (November 2021) Foxr1em1(IMPC)Tcp PMC8559929

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MGI Allele Allele Type Produced
Foxr1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Foxr1em1(IMPC)Tcp Exon Deletion Mice, Tissue
Foxr1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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