Gene Summary

Name:
MRN complex interacting protein
Synonyms:
3010026O09Rik

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
abnormal behavior Mrniptm1a(EUCOMM)Wtsi HOM   Early adult 1.29×10-06

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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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 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 Ambiguous
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
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 Not available
Hypothalamus N/A heterozygote Not available
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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 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 Not available
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
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 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 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 50% (1 of 2)
Uterus 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 0.0%
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.

Histopathology

Images

12 Images

Human diseases caused by Mrnip 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 Mrnip by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogon... OMIM:614840
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Young Syndrome
Azoospermia OMIM:279000
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... OMIM:614837
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Absence of pubertal development, Non... ORPHA:432
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Deafness-Hypogonadism Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulati... OMIM:602668
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased circulating osteocalcin leve... ORPHA:330015
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligozoospermia OMIM:614813
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Bloom Syndrome
Azoospermia, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, Male infertility ORPHA:125
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Diphallia
Penoscrotal transposition, Bifid scrotum, Ectopic scrotum, Cryptorchidism, Bifid penis, Rectoperi... ORPHA:227
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Tetrasomy 9P
Polymicrogyria, Pachygyria, Absent gallbladder, Cryptorchidism, Oligozoospermia, Micropenis, Infe... ORPHA:3310
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... ORPHA:273
Alström Syndrome
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Elevated circulating ... ORPHA:64

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.

Phenotype Allele Zygosity Sex Life Stage
Testes - atrophy Mrniptm1a(EUCOMM)Wtsi HOM Early adult

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 Mrnip.

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

Title Journal IMPC Allele PubMed ID
MRNIP interacts with sex body chromatin to support meiotic progression, spermatogenesis, and male fertility in mice. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (September 2022) Mrniptm1a(EUCOMM)Wtsi PMC9544956

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mrniptm261(pL1L2_GT0_DelLacZ_bsd) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mrniptm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mrniptm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mrniptm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mrniptm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mrniptm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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