Gene Summary

Name:
NLR family, pyrin domain containing 2
Synonyms:
E330007A02Rik,  Nbs1,  Nalp2,  Pan1,  PYPAF2

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 total retina thickness Nlrp2tm1b(KOMP)Wtsi HOM Early adult 5.60×10-07
abnormal eye anterior chamber depth Nlrp2tm1b(KOMP)Wtsi HOM   Early adult 1.26×10-06
abnormal retina outer nuclear layer morphology Nlrp2tm1b(KOMP)Wtsi HOM Early adult 6.39×10-06
abnormal skin coloration Nlrp2tm1b(KOMP)Wtsi HOM Early adult 6.46×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone 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)
Cecum 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder 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)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
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)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 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 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 0.0% (0 of 2)
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)
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)
Trigeminal V nerve 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)
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 0.54% (3 of 556)
aorta 0.18% (1 of 553)
bone 0.0%
brain 0.73% (4 of 551)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 538)
cecum 3.46% (12 of 347)
cerebellum 0.37% (2 of 539)
cerebral cortex 0.36% (2 of 550)
esophagus 1.82% (7 of 384)
eye 0.0%
gall bladder 0.0%
heart 0.36% (2 of 554)
hippocampus 0.56% (3 of 538)
hypothalamus 0.37% (2 of 544)
kidney 3.44% (19 of 553)
large intestine 1.77% (10 of 566)
liver 0.0%
lower urinary tract 0.18% (1 of 549)
lung 0.37% (2 of 546)
lymph node 0.18% (1 of 550)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.37% (2 of 545)
oral epithelium 0.0%
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.89% (5 of 562)
parathyroid gland 0.19% (1 of 517)
peripheral nervous system 0.36% (2 of 548)
peyers patch 0.0%
pituitary gland 0.18% (1 of 547)
prostate gland 2.03% (11 of 543)
skeletal muscle 0.0%
skin 0.18% (1 of 550)
small intestine 1.64% (9 of 550)
spinal cord 0.55% (3 of 542)
spleen 0.54% (3 of 553)
stomach 2.01% (11 of 548)
striatum 0.56% (3 of 537)
testis 0.92% (5 of 541)
thymus 0.18% (1 of 554)
thyroid gland 2.87% (16 of 558)
trachea 0.55% (3 of 544)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 4.19% (15 of 358)
vascular system 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.

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left eye

16 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 Skull Lateral Orientation

10 Images

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

3 Images

Human diseases caused by Nlrp2 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 Nlrp2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydatidiform Mole, Recurrent, 1
OMIM:231090

The table below shows human diseases predicted to be associated to Nlrp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract, Abnormality of skin pigmentation OMIM:300719
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Ovarian Dysgenesis 2
Primary amenorrhea, Gonadal hypoplasia, Abnormality of the uterus, Secondary amenorrhea, Prematur... OMIM:300510
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Dilution, Pigmentary
Hypopigmentation of the fundus, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Gonadal calcification, Ambiguous genitalia, Fem... ORPHA:206484
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Retinitis Pigmentosa 35
Rod-cone dystrophy, Abnormality of skin pigmentation, Cone/cone-rod dystrophy OMIM:610282
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Perrault Syndrome 6
Irregular menstruation, Primary amenorrhea, Streak ovary, Secondary amenorrhea, Premature ovarian... OMIM:617565
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Retinal detachment, Corneal guttata, Retinal dots... OMIM:193230
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... ORPHA:753
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency, Secondary amenorrhea OMIM:617175
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Premature Ovarian Failure 10
Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:612885
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Decreased fertility, Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Ele... OMIM:619203
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Polycystic ovaries, Abnormality of the ovary, Menorrhagia, Abnormality of the urethra... ORPHA:2795
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Elevated ci... OMIM:615723
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Cryptorchidism, Micropenis, Abnormality of the u... ORPHA:1916
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Ovarian Dysgenesis 9
Primary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619665
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:619146
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Ov... ORPHA:314478
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the uterus, Hypopl... ORPHA:3130
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Perrault Syndrome 4
Primary amenorrhea, Bicornuate uterus, Secondary amenorrhea, Premature ovarian insufficiency, Inc... OMIM:615300
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhea ORPHA:247768
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Infertility, Decreased female libido, Amenorrhea, Panhypopituitarism,... ORPHA:91348
Coats Disease
Retinal telangiectasia, Leukocoria, Exudative retinal detachment OMIM:300216
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Hymen, Imperforate
Hydrocolpos, Amenorrhea, Hematocolpos, Imperforate hymen OMIM:237100
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology ORPHA:722
Bardet-Biedl Syndrome 1
Micropenis, Abnormality of the ovary, Vaginal atresia, Hypogonadism, Decreased testicular size OMIM:209900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal ovarian morphology, Primary amenorrhea, Polycystic ovaries, Cryptorchidism, Micropenis, ... ORPHA:95699
Turner Syndrome
Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary amenorrhea, Female infert... ORPHA:881
Mosaic Monosomy X
Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary amenorrhea, Female infert... ORPHA:99228
Turner Syndrome Due To Structural X Chromosome Anomalies
Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary amenorrhea, Female infert... ORPHA:99413
Monosomy X
Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary amenorrhea, Female infert... ORPHA:99226
Hydatidiform Mole, Recurrent, 1
OMIM:231090

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 Nlrp2

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 Nlrp2.

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

Title Journal IMPC Allele PubMed ID
Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming. Scientific reports (March 2017) Nlrp2tm1a(KOMP)Wtsi PMC5357799

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MGI Allele Allele Type Produced
Nlrp2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nlrp2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Nlrp2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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