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Gene: Mkrn2 MGI:1914277

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Gene Summary

Name:
makorin, ring finger protein, 2
Synonyms:
2610002L04Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating aspartate transaminase level Mkrn2tm1b(KOMP)Wtsi HOM Early adult 5.11×10-08
male infertility Mkrn2em1(IMPC)Wtsi HOM Early adult 0.00
decreased dendritic epidermal T cell number Mkrn2tm1b(KOMP)Wtsi HOM   Early adult 0.00
male infertility Mkrn2tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal auditory brainstem response Mkrn2tm1b(KOMP)Wtsi HOM   Early adult 1.61×10-11
decreased mean corpuscular hemoglobin concentration Mkrn2em1(IMPC)Wtsi HOM   Early adult 9.17×10-05

Download data as:  TSV  XLS

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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 100% (2 of 2)
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 100% (2 of 2)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
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 100% (2 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 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 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 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood vessel 0.0%
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
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.

X-ray

XRay Images Skull Lateral Orientation

28 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

30 Images

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X-ray

XRay Images Forepaw

28 Images

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X-ray

XRay Images Whole Body Lateral Orientation

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

28 Images

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Eye Morphology

Images Slit Lamp

4 Images

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Legacy Phenotype Associated Images
Mkrn2tm1b(KOMP)Wtsi
WT, Female, WTSI
Mkrn2tm1b(KOMP)Wtsi
WT, Female, WTSI
Mkrn2tm1b(KOMP)Wtsi
WT, Female, WTSI
Mkrn2tm1b(KOMP)Wtsi
WT, Female, WTSI
Mkrn2tm1b(KOMP)Wtsi
WT, Female, WTSI

View all 177 images

Mkrn2tm1b(KOMP)Wtsi
corneal vascularization, HOM, Female, WTSI
Mkrn2tm1b(KOMP)Wtsi
corneal opacity, HOM, Female, WTSI
Mkrn2tm1b(KOMP)Wtsi
mydriasis, HOM, Female, WTSI
Mkrn2em1(IMPC)Wtsi
eye discharge, HOM, Female, WTSI
Mkrn2tm1b(KOMP)Wtsi
TS20 oral cavity, HET, Male, WTSI
Mkrn2tm1b(KOMP)Wtsi
TS20 head, HET, Male, WTSI
Mkrn2tm1b(KOMP)Wtsi
TS20 heart, HET, Male, WTSI
Mkrn2tm1b(KOMP)Wtsi
TS20 chorioallantoic placenta, HET, Male, WTSI
Mkrn2tm1b(KOMP)Wtsi
head, abnormal snout morphology, HOM, Female, WTSI
Mkrn2em1(IMPC)Wtsi
abnormal snout morphology, short snout, head, HOM, Male, WTSI
Mkrn2tm1b(KOMP)Wtsi
fetal edema, hemorrhage, HOM, Female, WTSI
Mkrn2tm1b(KOMP)Wtsi
HOM, Male, WTSI

Human diseases caused by Mkrn2 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 Mkrn2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... ORPHA:98798
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Obesity OMIM:615703
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Failur... OMIM:300200
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Young Syndrome
Azoospermia OMIM:279000
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D... ORPHA:320391
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
47,Xyy Syndrome
Oligospermia, Hypospadias, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Hypogonadism-Cataract Syndrome
Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Male hypogona... OMIM:240950
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia OMIM:602390
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... OMIM:613807
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absence of pubertal development... ORPHA:432
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Sm... ORPHA:330015
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:614935
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Eunuchoid habitus, Increased circulating gonadotropin l... ORPHA:99330
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Weight loss, Hypogonadism, Abnormal testis morphology, Primary testicular failure, ... ORPHA:85450
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... ORPHA:280679
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Eunuchoid h... ORPHA:91
Beta-Thalassemia
Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thro... ORPHA:848
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Small for gestational age, Failure to thrive, Diabetes mellitus, Clitoral hypoplasi... OMIM:614813
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Gapo Syndrome
Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea ORPHA:2067
Classic Galactosemia
Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Male infertil... ORPHA:79239
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... ORPHA:529799
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Testicular adrenal rest tumor, Adrenal insufficiency, Co... ORPHA:361
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Absent brainstem auditory responses, Vestibular areflexia, Increas... ORPHA:3240
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Weight loss, Erectile... ORPHA:465508
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... ORPHA:95699
Bloom Syndrome
Oligospermia, Small for gestational age, Azoospermia, Male infertility, Diabetes mellitus, Premat... ORPHA:125
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Streak ovary, Hypergonadotropic hypogonadism, Aplasia/hypoplasia of the uterus, Abse... ORPHA:2232
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... ORPHA:52368
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism,... ORPHA:300298
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Adult Krabbe Disease
Erectile dysfunction, EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Failure to thrive, E... OMIM:305400
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hypogonadism, Hep... ORPHA:231222
Fanconi Anemia, Complementation Group A
Cryptorchidism, Male infertility, Small for gestational age, Hypergonadotropic hypogonadism OMIM:227650
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Diabetes mellitus, Hypothyroidism OMIM:222300
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... ORPHA:99027
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Reduced sperm motility, Maturity-onset ... OMIM:137920
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Anemia, Macrotia, Hearing impairment, Male hy... ORPHA:90321
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
Tetrasomy 9P
Oligospermia, Infertility, Absent gallbladder, Pachygyria, Micropenis, Polymicrogyria, Cryptorchi... ORPHA:3310
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the endocrine system, Abnormality of the female genital... ORPHA:228123
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... ORPHA:101085
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... ORPHA:206436
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:216400
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Hepatosplen... ORPHA:79330
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... ORPHA:171929
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... ORPHA:909
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Cystinosis, Nephropathic
Failure to thrive in infancy, Primary hypothyroidism, Male hypogonadism, Male infertility, Diabet... OMIM:219800
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:133540
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol ORPHA:401973
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Cystic Fibrosis
Failure to thrive, Male infertility OMIM:219700
Noonan Syndrome 1
Hypospadias, Failure to thrive in infancy, Hypogonadism, Male infertility, Cryptorchidism OMIM:163950
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Alström Syndrome
Oligospermia, Elevated circulating thyroid-stimulating hormone concentration, Micropenis, Primary... ORPHA:64
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... ORPHA:273

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 Mkrn2

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 Mkrn2.

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) Mkrn2tm1b(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Mkrn2tm1b(KOMP)Wtsi Mkrn2em1(IMPC)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)