Gene Summary

Name:
ribosomal modification protein rimK-like family member B
Synonyms:
NAAGS,  4931417E21Rik,  4933426K21Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased heart weight Rimklbtm1.1(KOMP)Vlcg HOM Early adult 4.96×10-06
hyperactivity Rimklbtm1.1(KOMP)Vlcg HOM Late adult 3.23×10-10
male infertility Rimklbtm1.1(KOMP)Vlcg HOM Early adult 0.00
hyperactivity Rimklbtm1.1(KOMP)Vlcg HOM   Early adult 2.03×10-13
absent vibrissae Rimklbtm1.1(KOMP)Vlcg HOM   Late adult 8.05×10-05
increased grip strength Rimklbtm1.1(KOMP)Vlcg HOM Late adult 1.04×10-10
decreased total body fat amount Rimklbtm1.1(KOMP)Vlcg HOM   Late adult 8.87×10-06
abnormal sleep behavior Rimklbtm1.1(KOMP)Vlcg HOM Early adult 2.10×10-06
decreased total body fat amount Rimklbtm1.1(KOMP)Vlcg HOM Early adult 5.32×10-05
increased mean corpuscular hemoglobin Rimklbtm1.1(KOMP)Vlcg HOM   Early adult 6.61×10-05
increased bone mineral content Rimklbtm1.1(KOMP)Vlcg HOM Late adult 2.99×10-05

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

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Section

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Eye Morphology

Images Slit Lamp

1 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Rimklb 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 Rimklb by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
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 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
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 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Deleted in azoospermia
Azoospermia OMIM:400003
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Schizophrenia 15
Hyperactivity OMIM:613950
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia OMIM:615703
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... ORPHA:753
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Young Syndrome
Azoospermia OMIM:279000
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Hyperactivity, Abnormal heart mor... DECIPHER:39
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A... ORPHA:320391
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Female external genitalia in individual with 46,XY karyotype, Infertility, Hypothyroidism, Male p... OMIM:264300
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Cyanosis, Transient Neonatal
Hepatomegaly, Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp... ORPHA:752
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Azoospermia ORPHA:2183
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... OMIM:612650
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Beta-Thalassemia
Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly, Abnormal hemog... ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Azoospermia OMIM:618300
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Pericardial effusion, Hepatosplen... ORPHA:846
Lead Poisoning
Delayed puberty, Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abn... ORPHA:330015
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Hemochromatosis, Type 1
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... OMIM:235200
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Deafness-Hypogonadism Syndrome
Delayed puberty, Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Motor s... OMIM:620141
Myotonic Dystrophy 2
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... OMIM:602668
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Patent foramen ovale OMIM:617182
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... OMIM:612561
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Oligozoospermia, Hypogonadism ORPHA:2067
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Aggressiv... OMIM:252920
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Amenorrh... ORPHA:465508
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Hypogonadism, Macrocytic anemia, Neutropenia OMIM:620501
Beta-Thalassemia Intermedia
Hepatomegaly, Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatos... ORPHA:231222
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Inguinal hernia, Hyperactivity, Hirsutism, Synophrys, Umbilical hernia, Coarse hair OMIM:252900
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Sickle Cell Disease
Hepatomegaly, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Priapism, Cardiomegal... OMIM:603903
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to... ORPHA:3464
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Diabetes mellitus, Oligozoospermia, Clitoral hypoplasia OMIM:614813
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Umbilical hernia, Atrial septal defect, Ventricular septal defect, H... OMIM:619769
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Diabetes mellitus ORPHA:125
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F OMIM:617101
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Beta-Thalassemia Major
Anisopoikilocytosis, Hepatomegaly, Hypochromic microcytic anemia, Decreased mean corpuscular hemo... ORPHA:231214
Bone Marrow Failure Syndrome 3
Aplastic anemia, Amelogenesis imperfecta, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... OMIM:617052
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, HbH hemoglobin, Microcytic anemia ORPHA:98791
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Dextrocardia, Macrocytic anemia, Inguinal hernia, Hyperactivity,... OMIM:614294
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... OMIM:137920
Narcolepsy 3
Narcolepsy OMIM:609039
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Diphallia
Penoscrotal transposition, Epispadias, Bifid penis, Hypospadias, Ectopic scrotum, Abnormal sperma... ORPHA:227
Fanconi Anemia, Complementation Group A
Male infertility, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Abnorm... OMIM:227650
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Narcolepsy 1
Narcolepsy OMIM:161400
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Myocardial necrosis, Persistence of h... OMIM:260400
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Reduced ... OMIM:301040
Narcolepsy 7
Narcolepsy OMIM:614250
Tetrasomy 9P
Polymicrogyria, Infertility, Oligozoospermia, Pachygyria, Absent gallbladder, Lissencephaly, Cryp... ORPHA:3310
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Self-injurious behavior, Anemia, Abnormal hemoglobin ORPHA:847
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Coccidioidomycosis
Abnormality of the male genitalia, Abnormality of the female genitalia, Abnormal sperm morphology... ORPHA:228123
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Compulsive behaviors, Hepatosplenomegaly, Splenomegaly, Dys... ORPHA:646
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells ORPHA:3063
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... ORPHA:273
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Alkaptonuria
Prostatitis, Abnormal heart valve morphology, Mitral valve calcification, Aortic valve stenosis, ... ORPHA:56
Histidinemia
Hyperactivity ORPHA:2157
African Trypanosomiasis
Myocarditis, Hepatomegaly, Infertility, Impotence, Pericarditis, Hepatosplenomegaly, Splenomegaly... ORPHA:3385
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Narcolepsy, Polyphagia, Compulsive behaviors, Self-injurious behavior, Aggressive beh... ORPHA:293987
Cystic Fibrosis
Male infertility OMIM:219700
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... ORPHA:64
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypospadias, Hypogonadism OMIM:163950

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 Rimklb

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 Rimklb.

No publications found that use IMPC mice or data for Rimklb.

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MGI Allele Allele Type Produced
Rimklbtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Rimklbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rimklbtm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Rimklbtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rimklbtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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