Gene Summary

Name:
butyrobetaine (gamma), 2-oxoglutarate dioxygenase 1 (gamma-butyrobetaine hydroxylase)
Synonyms:
N/A

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
enlarged heart Bbox1tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal midbrain morphology Bbox1tm1b(KOMP)Wtsi HOM E12.5 0.00
enlarged heart Bbox1tm1a(KOMP)Wtsi HOM Early adult 0.00
abnormal hindbrain morphology Bbox1tm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal neural tube closure Bbox1tm1b(KOMP)Wtsi HOM E12.5 0.00
male infertility Bbox1tm1a(KOMP)Wtsi HOM Early adult 0.00
abnormal craniofacial morphology Bbox1tm1b(KOMP)Wtsi HOM E12.5 0.00
preweaning lethality, incomplete penetrance Bbox1tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal forebrain morphology Bbox1tm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal heart morphology Bbox1tm1a(KOMP)Wtsi HOM Early adult 0.00
increased body length Bbox1tm1b(KOMP)Wtsi HOM Early adult 6.55×10-06
unresponsive to tactile stimuli Bbox1tm1b(KOMP)Wtsi HOM E18.5 0.00
unresponsive to tactile stimuli Bbox1tm1b(KOMP)Wtsi HET E18.5 0.00

Download data as:  TSV  XLS

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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
Bone  Section images heterozygote 33.33% (2 of 6)
Brain  Wholemount images  Section images heterozygote 75% (6 of 8)
Brainstem  Wholemount images heterozygote 50% (4 of 8)
Cartilage tissue  Wholemount images  Section images heterozygote 75% (6 of 8)
Cerebellum  Wholemount images  Section images heterozygote 50% (4 of 8)
Epididymis  Section images heterozygote 25% (1 of 4)
Esophagus  Wholemount images heterozygote 25% (2 of 8)
Ileum  Section images heterozygote 50% (1 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Wholemount images  Section images heterozygote 100% (8 of 8)
Large intestine  Section images heterozygote 25% (2 of 8)
Liver  Wholemount images  Section images heterozygote 37.5% (3 of 8)
Lower urinary tract  Wholemount images heterozygote 50% (4 of 8)
Lung  Wholemount images  Section images heterozygote 50% (4 of 8)
Midbrain  Section images heterozygote 100% (4 of 4)
Oral epithelium  Wholemount images heterozygote 50% (2 of 4)
Ovary  Section images heterozygote 12.5% (1 of 8)
Oviduct  Wholemount images  Section images heterozygote 50% (4 of 8)
Penis  Section images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 25% (2 of 8)
Prostate gland  Wholemount images  Section images heterozygote 25% (2 of 8)
Skin  Wholemount images  Section images heterozygote 100% (8 of 8)
Small intestine  Wholemount images  Section images heterozygote 37.5% (3 of 8)
Spinal cord  Wholemount images  Section images heterozygote 75% (6 of 8)
Stomach  Wholemount images  Section images heterozygote 75% (6 of 8)
Striatum  Wholemount images heterozygote 25% (2 of 8)
Submandibular gland  Section images heterozygote 25% (1 of 4)
Testis  Wholemount images  Section images heterozygote 50% (4 of 8)
Thyroid gland  Wholemount images  Section images heterozygote 37.5% (3 of 8)
Tongue  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 25% (2 of 8)
Urinary bladder  Section images heterozygote 50% (2 of 4)
Uterus  Wholemount images  Section images heterozygote 25% (2 of 8)
Vas deferens  Wholemount images  Section images heterozygote 25% (1 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 8)
Aorta N/A heterozygote 0.0% (0 of 8)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 8)
Cecum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 0.0% (0 of 8)
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 8)
Gall bladder N/A heterozygote 0.0% (0 of 6)
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 8)
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote 0.0% (0 of 8)
Hypothalamus N/A heterozygote 0.0% (0 of 8)
Lymph node N/A heterozygote 0.0% (0 of 8)
Mammary gland N/A heterozygote 0.0% (0 of 8)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 8)
Pancreas N/A heterozygote 0.0% (0 of 8)
Parathyroid gland N/A heterozygote 0.0% (0 of 6)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 8)
Pituitary gland N/A heterozygote 0.0% (0 of 8)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 8)
Spleen N/A heterozygote 0.0% (0 of 8)
Stomach pyloric region N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 8)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 8)
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 8)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 85.71% (6 of 7)
Heart atrium N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Axial skeleton N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Brain N/A heterozygote 42.86% (3 of 7)
Brain N/A homozygote 0.0% (0 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Cranium N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Dorsal root ganglion N/A heterozygote 40% (2 of 5)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 7)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A homozygote 100% (2 of 2)
Outer ear N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Eye N/A heterozygote 0.0% (0 of 7)
Eye N/A homozygote 0.0% (0 of 2)
Femur pre-cartilage condensation N/A heterozygote 66.67% (2 of 3)
N/A Ambiguous
Footplate N/A heterozygote 14.29% (1 of 7)
Footplate N/A homozygote 0.0% (0 of 2)
Forearm N/A heterozygote 66.67% (2 of 3)
N/A Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 7)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 71.43% (5 of 7)
Forelimb N/A homozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 5)
N/A Ambiguous
Gut N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Handplate N/A heterozygote 14.29% (1 of 7)
Handplate N/A homozygote 0.0% (0 of 2)
Head mesenchyme N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Head N/A heterozygote 42.86% (3 of 7)
Head N/A homozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Heart N/A heterozygote 0.0% (0 of 7)
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 28.57% (2 of 7)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 71.43% (5 of 7)
Hindlimb N/A homozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 66.67% (2 of 3)
N/A Ambiguous
Inner ear N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Intestine N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Liver N/A heterozygote 0.0% (0 of 7)
Liver N/A homozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Lung N/A heterozygote 0.0% (0 of 7)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 14.29% (1 of 7)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 42.86% (3 of 7)
Maxillary process N/A homozygote 0.0% (0 of 2)
Mesonephros of female N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Mesonephros of male N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Metanephros N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 7)
Midbrain N/A homozygote 0.0% (0 of 2)
Nasal septum N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Nose N/A heterozygote 0.0% (0 of 5)
N/A Ambiguous
Notochord N/A heterozygote 66.67% (2 of 3)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 7)
Oral cavity N/A homozygote 0.0% (0 of 2)
Outflow tract N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Pancreas N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Pharynx N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote 66.67% (2 of 3)
N/A Ambiguous
Rib pre-cartilage condensation N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Skeleton N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Skin N/A heterozygote 0.0% (0 of 7)
Skin N/A homozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 60% (3 of 5)
N/A Ambiguous
Stomach N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 7)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 14.29% (1 of 7)
Tail N/A homozygote 0.0% (0 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 25% (1 of 4)
N/A Ambiguous
Tongue N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Trachea N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Trunk mesenchyme N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Umbilical artery embryonic part N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Umbilical vein embryonic part N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Upper arm N/A heterozygote 66.67% (2 of 3)
N/A Ambiguous
Upper leg N/A heterozygote 66.67% (2 of 3)
N/A Ambiguous
Urinary system N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Vibrissa N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
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)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

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 Wholemount

28 Images

Adult LacZ

LacZ Images Section

65 Images

Echo

M-Mode Images

40 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Sleep Wake

Wake state (bmp file)

6 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

22 Images

X-ray

XRay Images Whole Body Dorso Ventral

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

23 Images

Embryo LacZ

LacZ images wholemount

21 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

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

12 Images

Human diseases caused by Bbox1 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 Bbox1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Joubert Syndrome 13
Pachygyria, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Ethanolaminosis
Cardiomegaly OMIM:227150
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 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, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
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
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia of the pons,... ORPHA:280195
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Male infertility OMIM:618948
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cerebellar atrophy, Schizencephaly, Hypoplasia of the pons, Dysgenesi... ORPHA:300573
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebral... ORPHA:166024
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal corpus callosum morphology, Abnormal brainstem morphology, Abnorm... ORPHA:255182
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
Ciliary Dyskinesia, Primary, 40
Azoospermia, Abnormal heart morphology, Infertility, Situs inversus totalis OMIM:618300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, El... OMIM:609583
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormality of the b... ORPHA:99852
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal cerebellum m... ORPHA:1532
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Postural tremor, Kinetic tremor, Cerebral white matter atrophy, Abnor... ORPHA:98756
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Anencephaly, Agenesis of cerebellar vermis, Molar tooth s... OMIM:611134
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Hy... OMIM:617542
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Joubert Syndrome 22
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Temporal cortical atrophy, Agenesis o... OMIM:615665
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Joubert Syndrome 32
Molar tooth sign on MRI, Polymicrogyria, Abnormal cerebellum morphology OMIM:617757
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence ORPHA:85447
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Joubert Syndrome 30
Dandy-Walker malformation, Superior cerebellar dysplasia, Cerebellar atrophy, Molar tooth sign on... OMIM:617622
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Molar tooth sign on MRI OMIM:617761
Slc35A2-Cdg
Dandy-Walker malformation, Abnormal midbrain morphology, Cerebellar atrophy, Atrophy/Degeneration... ORPHA:356961
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis... ORPHA:370022
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Joubert Syndrome 7
Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia, Abnormal corpus callos... OMIM:611560
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Diffuse white matter abnormalities, Agenesis of corpus callosum, Dilated fourth ... ORPHA:370959
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Male infertility OMIM:619607
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Simplified gyral pattern, Abnormal cerebral cortex morphology ORPHA:411493
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Male infertility OMIM:612444
Joubert Syndrome 16
Dandy-Walker malformation, Molar tooth sign on MRI OMIM:614465
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Anencephaly OMIM:614175
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal corpus callosum morp... ORPHA:206448
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Cardiom... OMIM:235200
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Joubert Syndrome 17
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614615
Alg3-Cdg
Dandy-Walker malformation, Neural tube defect, Hypoplasia of the pons, Abnormal cerebral morpholo... ORPHA:79321
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Agenesis of cerebellar vermis, Abnormal cerebral cortex morphology, Ab... ORPHA:163961
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:277170
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Absent mesencephalon, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... OMIM:619306
Joubert Syndrome 2
Brainstem dysplasia, Dysgenesis of the cerebellar vermis, Agenesis of cerebellar vermis, Abnormal... OMIM:608091
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:618161
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Male infertility, Immotile sperm OMIM:614874
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:608629
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Joubert Syndrome With Renal Defect
Tremor, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus, Polymicrogyria, Age... ORPHA:220497
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Cerebellar cyst, Abnormal brainstem morphology, Cerebellar vermis hypop... ORPHA:370997
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, El... OMIM:610688
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal pons morphology, Opisthotonus, Pill-rolling tremor, Abnorm... ORPHA:79139
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... ORPHA:860
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dilated third ventricle, Dandy-Walker malformation, Dysgenesis of the cerebellar ver... ORPHA:397715
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... OMIM:300257
Joubert Syndrome 37
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:619185
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... OMIM:115197
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Joubert Syndrome With Ocular Defect
Tremor, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus, Polymicrogyria, Age... ORPHA:220493
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Abn... ORPHA:68
Joubert Syndrome 1
Brainstem dysplasia, Occipital myelomeningocele, Dysgenesis of the cerebellar vermis, Agenesis of... OMIM:213300
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Joubert Syndrome 38
Inferior vermis hypoplasia, Small pituitary gland, Cerebellar vermis hypoplasia, Molar tooth sign... OMIM:619476
Timothy Syndrome
Cardiomegaly, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly OMIM:212140
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Molar tooth sign on MRI,... ORPHA:2318
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Inferior vermis hypoplasia, Hypoplasia of t... ORPHA:444072
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Spinocerebellar Ataxia Type 1
Postural tremor, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Loss of Purkin... ORPHA:98755
Arima Syndrome
Occipital meningocele, Brainstem dysplasia, Agenesis of cerebellar vermis, Dilated fourth ventric... OMIM:243910
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:618652
Arnold-Chiari Malformation Type Ii
Meningocele, Partial agenesis of the corpus callosum, Abnormality of the medulla oblongata, Opist... ORPHA:1136
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Impotence OMIM:105210
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Cardiom... ORPHA:465508
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Large for gestational age, Congenital ... OMIM:239850
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Polymicrogyria, Hydrocephalus OMIM:616546
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Abnormal hypothalamus morphology, Abnormality of the pituitary glan... ORPHA:314621
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Gangliocytoma
Abnormal prolactin level, Abnormality of the pituitary gland, Abnormal brainstem morphology, Pitu... ORPHA:251937
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal putamen morphology, Cerebral edema, Abnormal brainstem MR... ORPHA:88619
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Primary Ciliary Dyskinesia
Situs inversus totalis, Abnormal heart morphology, Double outlet right ventricle, Abnormal sperm ... ORPHA:244
Coach Syndrome 1
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebellar vermis OMIM:216360
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus,... ORPHA:1908
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Ring Chromosome Y Syndrome
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... ORPHA:261529
Classic Galactosemia
Hepatomegaly, Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary amenorrhea, Prematu... ORPHA:79239
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Priapism, Splenomegaly OMIM:603903
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum ORPHA:79279
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality o... ORPHA:2720
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve pro... ORPHA:324410
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Increased circulating gonadotropin lev... ORPHA:8
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... OMIM:306955
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Tremor, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aplasia/Hy... ORPHA:2754
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy OMIM:261740
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619562
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dysgenesis of the cerebellar vermis, Small pituitary gland, Molar tooth sign on MRI, Dilation of ... OMIM:619479
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, S... ORPHA:1926
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebe... OMIM:610188
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Cardiomegaly, Large for g... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology, Encephalomalacia ORPHA:231160
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence OMIM:268800
Joubert Syndrome 8
Molar tooth sign on MRI OMIM:612291
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Cardiomegaly, Overriding aorta OMIM:617022
Posterior Meningocele
Meningocele, Occipital meningocele, Chiari malformation, Neural tube defect, Hydrocephalus, Lipom... ORPHA:268810
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Leigh Syndrome With Cardiomyopathy
Neuronal loss in basal ganglia, Diffuse white matter abnormalities, Abnormal globus pallidus morp... ORPHA:70474
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Dandy-Walker malformation, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616300
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Azoospermia, Cardiomegaly, Pulmon... OMIM:602782
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Cardiomegaly OMIM:114620
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Enlarged kidney OMIM:608836
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Neonatal death, Cardiomegaly, Splenomegaly, Hepatosplenomegaly OMIM:608013
Orofaciodigital Syndrome Xiv
Dandy-Walker malformation, Holoprosencephaly, Simplified gyral pattern, Molar tooth sign on MRI, ... OMIM:615948
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defect ORPHA:79330
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Gonadotropin deficiency, Adrenocorticotropic hormone deficiency, Ce... ORPHA:293987
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Dila... ORPHA:434179
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology, Diffuse cerebellar atrophy, Cerebral cortical atrophy, Intention t... ORPHA:93256
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Disproportionate tall stature, Cardiomegaly, Tall stature ORPHA:2463
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Male infertility OMIM:244400
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:308552
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Cardiomegaly OMIM:614921
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Iniencephaly
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Lissencephaly, Spina... ORPHA:63259
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... ORPHA:3384
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... OMIM:245600
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... ORPHA:980
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy ORPHA:228308
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... ORPHA:1677
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Male infertility, Hypergonadotropic hypogonadism OMIM:227650
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Hypogonadism, Hepatosplenomegaly, Male infertility ORPHA:85450
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252500
Semilobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:220386
Alobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93926
Lobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93924
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... ORPHA:95430
Mucopolysaccharidosis Type 3
Hepatomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Cardiomegaly, S... ORPHA:581
Aromatase Deficiency
Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, Enlarge... ORPHA:91
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... ORPHA:99125
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Tall stature ORPHA:91387
Greenberg Dysplasia
Hepatomegaly, Neonatal death, Cardiomegaly, Stillbirth, Hepatosplenomegaly OMIM:215140
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Enlarged kidney OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Male infertility, Primary amenorrhea, Azoospermia ORPHA:90797
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Male infertility, Primary amenorrhea, Irregular menstruation, Decreased fertility ORPHA:90793
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Posterior pituitary hypoplasia, Abnormal brainstem morphology, Microcephaly, Hypoplasia of the co... ORPHA:464311
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:137675
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... ORPHA:75565
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:365
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Tall stature, Cardiomegaly, Large for gestational age,... ORPHA:116
Schinzel-Giedion Syndrome
Neural tube defect, Chiari type I malformation, Hypoplasia of the corpus callosum, Umbilical hern... ORPHA:798
Cystic Fibrosis
Cor pulmonale, Hepatomegaly, Hepatosplenomegaly, Male infertility OMIM:219700
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Irregular menstruation, Cardiomegaly, Splenomegaly OMIM:256040
Williams Syndrome
Hypertrophic cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal endocardi... ORPHA:904
Bloom Syndrome
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia ORPHA:125
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Azoospermia, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, ... ORPHA:251510
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Streak ovary, Azoospermia, Chordee, Male infertility ORPHA:1772
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot ORPHA:3472
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Hypogonadism, Atrial s... OMIM:163950
Cystinosis, Nephropathic
Hepatomegaly, Male hypogonadism, Male infertility, Splenomegaly OMIM:219800
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Aortic valve calcification... OMIM:182250
Generalized Arterial Calcification Of Infancy
Recurrent spontaneous abortion, Myocardial calcification, Pericardial effusion, Ventricular hyper... ORPHA:51608

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 Bbox1

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 Bbox1.

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

Title Journal IMPC Allele PubMed ID
Spatiotemporal gene expression patterns reveal molecular relatedness between retinal laminae. The Journal of comparative neurology (October 2019) Bbox1tm1b(KOMP)Wtsi 31609468

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MGI Allele Allele Type Produced
Bbox1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bbox1em1(IMPC)Bay Exon Deletion Mice, Tissue
Bbox1em2(IMPC)Bay Deletion Mice
Bbox1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bbox1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells, Tissue
Bbox1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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