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Gene: Nsmf MGI:1861755

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Gene Summary

Name:
NMDA receptor synaptonuclear signaling and neuronal migration factor
Synonyms:
Jacob,  Nelf

Order Alleles

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.

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Viewing: all phenotypes
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 N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 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%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Nsmftm1a(KOMP)Wtsi
body, HOM, Female, WTSI
Nsmftm1a(KOMP)Wtsi
body, HOM, Female, WTSI
Nsmftm1a(KOMP)Wtsi
head, HOM, Female, WTSI
Nsmftm1a(KOMP)Wtsi
forearm, HOM, Female, WTSI
Nsmftm1a(KOMP)Wtsi
body, WT, Male, WTSI

View all 96 images

Nsmftm1a(KOMP)Wtsi
HOM, Male, WTSI
Nsmftm1a(KOMP)Wtsi
3rd ventricle, enlarged third ventricle, HOM, Male, WTSI
Nsmftm1a(KOMP)Wtsi
HOM, Male, WTSI
Nsmftm1a(KOMP)Wtsi
3rd ventricle, enlarged third ventricle, HOM, Male, WTSI
Nsmftm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism OMIM:614838

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
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
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
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
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Invasive Mole
Menometrorrhagia ORPHA:99925
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... OMIM:264300
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... ORPHA:91354
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... ORPHA:752
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased testicu... ORPHA:90695
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... OMIM:612702
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog... OMIM:202110
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty ORPHA:217377
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Premature pubarche OMIM:612847
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Frasier Syndrome
Primary amenorrhea, Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea OMIM:614851
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614880
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Pituitary Gigantism
Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, Pituitary growth... ORPHA:99725
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... ORPHA:95494
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Irregular menstruation, Clitoral hypertrophy, Long penis, Premature adrenarch... ORPHA:90795
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... OMIM:158330
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche OMIM:614662
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... ORPHA:3464
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction ORPHA:2073
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Trisomy X
Precocious puberty, Premature ovarian insufficiency, Secondary amenorrhea ORPHA:3375
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Sim1-Related Prader-Willi-Like Syndrome
Precocious puberty, Small scrotum, Premature adrenarche, Small pituitary gland, Central hypothyro... ORPHA:398079
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypog... ORPHA:300373
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Intellectual Developmental Disorder, Autosomal Recessive 76
Precocious puberty in females OMIM:619931
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Septopreoptic Holoprosencephaly
Precocious puberty, Central diabetes insipidus, Anterior hypopituitarism ORPHA:280195
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Cryptorchidism, Decreased response to growth hormo... ORPHA:254516
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Hypogonadism, Cryptorchidism, Gonadal dysgenesis ORPHA:3306
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Dystonia 28
Precocious puberty, Hypothyroidism ORPHA:589618
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty ORPHA:254525
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Premature adrenarche, Small pituitary gland, Decreased circula... ORPHA:739
Woolly Hair Nevus
Precocious puberty ORPHA:79414
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Hyperi... OMIM:262190
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young ORPHA:254531
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small scrotum, Small pituitary gland, Central hypothyroidism, Hypogonadism, D... ORPHA:398069
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Ollier Disease
Precocious puberty ORPHA:296
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia... ORPHA:90794
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty ORPHA:293181
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty OMIM:615866
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Metrorrhagia, Ovarian neoplasm, Ne... ORPHA:370348
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Temple Syndrome
Precocious puberty, Decreased testicular size, Maturity-onset diabetes of the young, Cryptorchidism OMIM:616222
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty OMIM:300958
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias OMIM:309801
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... OMIM:146255
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic ... OMIM:246200
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Decreased response to growth hormone stimulation test, Externa... OMIM:176270
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic labia majora, Ele... OMIM:618419
Leopard Syndrome 1
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... OMIM:151100
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Cryptorchidism ORPHA:96184
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Silver-Russell Syndrome
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormal v... ORPHA:813
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Micropenis, Labial hypoplasia, Cryptorchidism OMIM:620073
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
19P13.3 Microduplication Syndrome
Precocious puberty, Unilateral cryptorchidism ORPHA:447980
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism OMIM:601186
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypothyroidism, Hypospadias, Cryptorchidism ORPHA:254346
Bardet-Biedl Syndrome
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... ORPHA:110
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Myhre Syndrome
Abnormal penis morphology, Precocious puberty, Hypogonadism, External genital hypoplasia, Cryptor... ORPHA:2588
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Delayed puberty ORPHA:819
Slc35A2-Cdg
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration ORPHA:356961
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula OMIM:608980
Alg9-Cdg
Hypoplastic nipples, Bicornuate uterus, Hypoplasia of the ovary ORPHA:79328
Radio-Tartaglia Syndrome
Precocious puberty OMIM:619312
9P13 Microdeletion Syndrome
Precocious puberty, External genital hypoplasia ORPHA:324313
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Decreased testicular size, Hypoplasia of the ovary OMIM:619321
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty ORPHA:261652
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... ORPHA:64744
Carpenter Syndrome 1
Precocious puberty, External genital hypoplasia, Cryptorchidism OMIM:201000
Phakomatosis Pigmentokeratotica
Precocious puberty, Pheochromocytoma, Cryptorchidism ORPHA:2874
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty OMIM:163200
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty ORPHA:163681
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... OMIM:146510
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Aplasia/Hypoplasia of the gallbladder, Micropenis, Cryptorchidism ORPHA:96092
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Premature adrenarche, Decreased response to growth hormone stimulation test, ... ORPHA:96182
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal female external genitalia morphology, Precocious puberty ORPHA:2637
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Ectopic anterior pituitary gland OMIM:620558
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... ORPHA:672
Bainbridge-Ropers Syndrome
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:615485
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Tay-Sachs Disease
Precocious puberty, Abnormal thalamic MRI signal intensity ORPHA:845
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism OMIM:614838
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Type II diabetes mellitus, Hypospadias OMIM:210720
Schinzel-Giedion Syndrome
Annular pancreas, Central hypothyroidism, Streak ovary, Micropenis, Hypospadias ORPHA:798
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchidism ORPHA:96191
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus OMIM:619269
Peters Plus Syndrome
Congenital hypothyroidism, Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Anterior hypopi... ORPHA:709
Tuberous Sclerosis 1
Precocious puberty, Hypothyroidism, Adenoma sebaceum OMIM:191100
Alexander Disease
Precocious puberty, Hypothyroidism, Diabetes mellitus ORPHA:58
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Hypoparathyroidism ORPHA:369837
Tuberous Sclerosis 2
Precocious puberty, Hypothyroidism, Adenoma sebaceum OMIM:613254
Peters-Plus Syndrome
Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Bilobate gallbladder, Hypopla... OMIM:261540
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis OMIM:301066
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Decreased response to growth hormone stimulation test, Primary adrenal insuff... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Primary adrenal insuff... ORPHA:363958
Kabuki Syndrome
Precocious puberty, Hypoplasia of penis, Hypospadias, Cryptorchidism ORPHA:2322
Smith-Lemli-Opitz Syndrome
Precocious puberty, Small scrotum, Bifid scrotum, Septate vagina, Cryptorchidism, Ambiguous genit... OMIM:270400
Aicardi Syndrome
Precocious puberty, Dilated third ventricle OMIM:304050
Aicardi Syndrome
Precocious puberty, Delayed puberty ORPHA:50
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Cryptorchidism, Uterine prolap... ORPHA:438213
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Early Infantile Epileptic Encephalopathy
Precocious puberty, Micropenis ORPHA:1934
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism OMIM:616682
Neurofibromatosis Type 1
Precocious puberty, Pheochromocytoma, Cryptorchidism, Delayed puberty, Carcinoid tumor, Abnormali... ORPHA:636
Wolf-Hirschhorn Syndrome
Precocious puberty, Aplasia of the uterus, Hypospadias, Cryptorchidism OMIM:194190
Williams Syndrome
Precocious puberty, Cholelithiasis, Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries... ORPHA:904
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Cryptorchidism, Epididymal cyst, Hypospadias ORPHA:2044
Sponastrime Dysplasia
Precocious puberty, Hypothyroidism, Hypospadias ORPHA:93357
17Q11 Microdeletion Syndrome
Precocious puberty, Elevated circulating parathyroid hormone level, Pheochromocytoma, Delayed pub... ORPHA:97685

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 Nsmf

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 Nsmf.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
NSMF promotes the replication stress-induced DNA damage response for genome maintenance. Nucleic acids research (June 2021) Nsmftm1a(KOMP)Wtsi PMC8191778
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Nsmftm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Nsmftm1a(KOMP)Wtsi