Gene Summary

Name:
Moloney sarcoma oncogene
Synonyms:
c-mos

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
increased heart weight Mostm1.1(KOMP)Vlcg HOM Early adult 2.13×10-06
abnormal bone structure Mostm1.1(KOMP)Vlcg HOM   Early adult 4.21×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 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.

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Adult LacZ

LacZ Images Section

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Sleep Wake

Wake state (bmp file)

3 Images

X-ray

XRay Images Forepaw

11 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Electroretinography 2

Rod and cone PDF

1 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Gestational Choriocarcinoma
Choriocarcinoma, Trophoblastic tumor, Metrorrhagia, Neoplasm ORPHA:99926
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Testicular Germ Cell Tumor
Choriocarcinoma, Teratoma, Azoospermia, Embryonal neoplasm OMIM:273300
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Gonadoblastoma
Gonadoblastoma OMIM:424500
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism ORPHA:1643
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Ethanolaminosis
Cardiomegaly OMIM:227150
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries OMIM:184700
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Hypoplasia of the uterus, Female infertility OMIM:617442
Testicular Germ Cell Tumor 1
Germ cell neoplasia OMIM:300228
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali... OMIM:228300
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Plin1-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Infertility ORPHA:280356
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Pituitary go... ORPHA:91348
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Serrated Polyposis Syndrome
Ovarian neoplasm, Pancreatic adenocarcinoma, Germ cell neoplasia, Colorectal polyposis, Breast ca... ORPHA:157798
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy... OMIM:277000
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size, Polycystic ovari... ORPHA:3085
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Ovarian Dysgenesis 2
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:300510
Teratoma, Pineal
Teratoma OMIM:273120
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration ORPHA:90301
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Polycystic ovaries, Hypergonadotropic hypogonadism OMIM:268020
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries ORPHA:79084
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Male infertility, Female external genitalia in individua... ORPHA:90793
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries ORPHA:79085
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea OMIM:615363
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility, Ambiguous genitalia, male, Female external genitalia in individual with 46,X... ORPHA:90796
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Primary amenorrhea OMIM:614324
46,Xy Sex Reversal 1
Gonadal dysgenesis, Abnormal female external genitalia morphology, Abnormal male external genital... OMIM:400044
Premature Ovarian Failure 18
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Elevated circulat... OMIM:619203
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Currarino Syndrome
Hypospadias, Hypoplasia of penis, Bifid scrotum, Male pseudohermaphroditism, Sacrococcygeal teratoma ORPHA:1552
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Lipodystrophy, Familial Partial, Type 3
Oligomenorrhea, Polycystic ovaries, Primary amenorrhea OMIM:604367
Distal Deletion 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Oligomenorrhea, Amenorrhea, Overgrowth of ex... ORPHA:528
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries ORPHA:435651
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:619834
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Abnormal labia majora morphology ORPHA:435660
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Long penis, Ambiguous gen... ORPHA:90795
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst, Renal cyst OMIM:617100
Ataxia-Telangiectasia
Polycystic ovaries, Abnormal testis morphology ORPHA:100
46,Xy Sex Reversal 6
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Chordee, Sex reversal, Dysgerminoma, Gonad... OMIM:613762
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Teratoma, Hypoplastic labia minora, Bicornuate uterus, Hepatoblastoma... OMIM:269150
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Oligomenorrhea, Dysmenorrhea, Primary amenorrhea, Polycystic ovaries ORPHA:79083
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Streak ovary, Abnormal epididymis morphology, Hypoplasia of the fallopi... OMIM:233420
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis ORPHA:88643
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Aicardi Syndrome
Lipoma, Carcinoma, Metastatic angiosarcoma, Teratoma, Hemangioma, Precocious puberty, Hepatoblastoma OMIM:304050
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:619665
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Ovarian cyst, Enlarged polycy... ORPHA:64739
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital sinus anomaly, Mic... ORPHA:1772
Partial Androgen Insensitivity Syndrome
Blind vagina, Male infertility, Clitoral hypertrophy, Hypospadias, Germ cell neoplasia, Azoosperm... ORPHA:90797
Luscan-Lumish Syndrome
Polycystic ovaries, Irregular menstruation OMIM:616831
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Polycystic ovaries, Dysmenorrhea ORPHA:2348
Bangstad Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Abnormal testis morphology ORPHA:1227
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma ORPHA:1757
Schinzel-Giedion Syndrome
Hypospadias, Streak ovary, Teratoma, Ependymoma, Hepatoblastoma, Nephroblastoma, Sacrococcygeal t... ORPHA:798
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Hypoplasia of the uterus, Stre... ORPHA:168563
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Ger... ORPHA:99429
46,Xy Ovotesticular Difference Of Sex Development
Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita... ORPHA:325345
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Ovarian cyst, Long penis OMIM:246200
Duplication Of The Pituitary Gland
Teratoma ORPHA:314621
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Congenital Fibrinogen Deficiency
Decreased testicular size, Hemorrhagic ovarian cyst, Micropenis ORPHA:335
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Mccune-Albright Syndrome
Decreased fertility, Abnormal testis morphology, Precocious puberty, Ovarian cyst, Elevated circu... ORPHA:562
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Primary amenorrhea, Cryptorchidis... OMIM:614841
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Nephroblastom... OMIM:194072
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Hypergonadotropic hyp... ORPHA:347
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea OMIM:618841
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Cowden Syndrome 6
Varicocele, Ovarian cyst, Goiter, Hydrocele testis OMIM:615109
Preeclampsia
Polycystic ovaries ORPHA:275555
Estrogen Resistance Syndrome
Breast hypoplasia, Enlarged polycystic ovaries, Primary amenorrhea, Increased circulating gonadot... ORPHA:785
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst OMIM:610475
Cowden Syndrome 1
Varicocele, Ovarian cyst, Goiter, Ovarian carcinoma, Hydrocele testis OMIM:158350
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Secondary amen... ORPHA:572333
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Oligomenorrhea, Polycystic ovaries, Dysmenorrhea, Irregular menstruation ORPHA:79240
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Hypoplasia of the vagina, Prima... ORPHA:3109
Cowden Syndrome 5
Goiter, Ovarian cyst, Hydrocele testis OMIM:615108
Ovarian Fibrothecoma
Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification... ORPHA:314478
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Neoplasm of the skin, Ovarian dermo... ORPHA:480536
Cystic Echinococcosis
Hepatic cysts, Ovarian cyst, Abnormality of the testis size, Renal cyst ORPHA:400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Oligomenorrhea, Polycystic ovaries, Dysmenorrhea, Irregular menstruation ORPHA:264580
Short Syndrome
Ovarian cyst OMIM:269880
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma ORPHA:454840
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal... ORPHA:95699
46,Xy Partial Gonadal Dysgenesis
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... ORPHA:251510
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Nodular goiter, Premature thelarche ORPHA:371428
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm, Precocious puberty with Sertoli cell tumor OMIM:175200
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Increased circulating pr... ORPHA:1359
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Polycystic ovaries, Dysmenorrhea ORPHA:280365
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Hypoplasia of the uterus, Irregu... OMIM:110100
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the uterus, Amenorrhea, Hypopla... ORPHA:3130
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism OMIM:618188
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Hyperpituitarism, Ovarian cyst, Elevated circ... ORPHA:249
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Renal cyst, Unicornuate uterus, Ovarian cyst, Crypt... OMIM:614527
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Multiple renal cysts, Cervix cancer ORPHA:2869
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Decreased fertility in females, Polycystic ovaries, Decreased fertility, La... OMIM:269700
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis ORPHA:276280
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... ORPHA:2298
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Decreased fertility in females, Labial hypertrophy, Polycystic ovaries OMIM:608594
Acquired Generalized Lipodystrophy
Polycystic ovaries ORPHA:79086
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Pancreatic cysts, Ovarian cyst, Hepatic cysts OMIM:311200
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Breast hypoplasia, Small pituitary gland, Agonadism, Infertility, Impotence, Non-obstructive azoo... ORPHA:2232
Bardet-Biedl Syndrome
Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Hypoplasia of the ovary,... ORPHA:110
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Polycystic ovaries OMIM:151660
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Menorrhagia, Polycystic ovaries, Irregular menstruation ORPHA:79259
Histiocytoid Cardiomyopathy
Polycystic ovaries, Renal cyst ORPHA:137675
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Currarino Syndrome
Presacral teratoma, Septate vagina, Bicornuate uterus, Rectovaginal fistula OMIM:176450
Digeorge Syndrome
Cholelithiasis, Hypoplasia of the thymus, Parathyroid hypoplasia, Ovarian cyst, Parathyroid agene... OMIM:188400
Williams Syndrome
Cholelithiasis, Hypoplasia of penis, Precocious puberty, Functional abnormality of male internal ... ORPHA:904
Hypoplasminogenemia
Abnormal fallopian tube morphology, Cervicitis, Abnormality of the ovary ORPHA:722
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Neoplasm of the lung, Ovarian teratoma, Melanoma, Neuroblastoma, Breas... ORPHA:1183
Cowden Syndrome
Adenoma sebaceum, Abnormal penis morphology, Enlarged polycystic ovaries, Abnormality of the uter... ORPHA:201
Sotos Syndrome
Small cell lung carcinoma, Hypospadias, Phimosis, Cryptorchidism, Neuroblastoma, Astrocytoma, Acu... ORPHA:821
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Long penis, Precocious puberty, Increased pineal volume, Enlarged ovaries ORPHA:769
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Enlarged ovaries, Cryptorchidism ORPHA:2745
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Melanoma, Female... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Melanoma, Female... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Melanoma, Female... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Melanoma, Female... ORPHA:99226
Limb-Mammary Syndrome
Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bilateral breast hypop... ORPHA:69085
Leprechaunism
Clitoral hypertrophy, Long penis, Labial hypertrophy, Overgrowth of external genitalia, Enlarged ... ORPHA:508
Alström Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty in females, Hypoplasia ... ORPHA:64
Proteus Syndrome
Ovarian neoplasm, Long penis, Testicular neoplasm, Enlarged polycystic ovaries, Renal cyst, Thymu... ORPHA:744
Nmda Receptor Encephalitis
Testicular teratoma, Neoplasm of the lung, Ovarian teratoma, Neoplasm of the thymus, Neuroblastom... ORPHA:217253
Pyomyositis
Testicular teratoma ORPHA:764

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 Mos

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 Mos.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Mospd1tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Mospd1tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Mospd1tm1a(KOMP)Wtsi