Gene: Hmbs

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Name
hydroxymethylbilane synthase
MGI ID
MGI:96112
Synonyms
porphobilinogen deaminase PBGD Uros1 Ups
Viability
Embryo viewer
N/A
Other links
Significant
Not Significant
Not tested
Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Hmbstm1b(EUCOMM)Hmgu HOM   Early adult 0.00
embryonic lethality prior to organogenesis Hmbstm1b(EUCOMM)Hmgu HOM   E9.5 0.00
abnormal lens morphology Hmbstm1b(EUCOMM)Hmgu HET Early adult 5.72×10-06
increased startle reflex Hmbstm1b(EUCOMM)Hmgu HET Early adult 7.23×10-06
hyperactivity Hmbstm1b(EUCOMM)Hmgu HET Early adult 2.42×10-05
abnormal vitreous body morphology Hmbstm1b(EUCOMM)Hmgu HET Early adult 1.06×10-05

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Viewing: all phenotypes

 Expression

IMPC lacZ Expression Data

 Expression  No Expression  Ambiguous  No Tissue Available
Anatomy #HET Specimens HOM Images? WT Expr Mutant Expr Images
Adrenal gland 2 No  (4/584)  (1/2)  Section images
Aorta 2 No  (1/584)  (2/2)  Section images
Brain 2 No  (4/584)  (2/2)  Section images
Brainstem 2 No  (2/584)  (2/2)  Section images
Brown adipose tissue 2 No  (2/2)  Section images
Cartilage tissue 2 No  (1/584)  (2/2)  Section images
Cerebellum 2 No  (3/584)  (2/2)  Section images
Cerebral cortex 2 No  (2/584)  (2/2)  Section images
Epididymis 2 No  (17/133)  (1/2)  Section images
Esophagus 2 No  (7/408)  (1/2)  Section images
Eye 2 No  (2/2)  Section images
Heart 2 No  (2/584)  (2/2)  Section images
Hippocampus 2 No  (3/584)  (2/2)  Section images
Hypothalamus 2 No  (2/584)  (2/2)  Section images
Kidney 2 No  (21/584)  (2/2)  Section images
Large intestine 2 No  (10/584)  (2/2)  Section images
Liver 2 No  (2/2)  Section images
Lower urinary tract 2 No  (1/584) N/A
Lung 2 No  (2/584)  (2/2)  Section images
Lymph node 2 No  (1/584) N/A
Mammary gland 2 No  (1/2)  Section images
Midbrain 2 No  (2/2)  Section images
Olfactory lobe 2 No  (2/584)  (2/2)  Section images
Ovary 2 No  (1/584)  (1/2)  Section images
Oviduct 2 No N/A
Pancreas 2 No  (5/584)  (2/2)  Section images
Peripheral nervous system 2 No  (2/584)  (2/2)  Section images
Peyer's patch 2 No N/A
Pituitary gland 2 No  (1/584)  (2/2)  Section images
Prostate gland 2 No  (12/584) N/A
Skeletal muscle 2 No N/A
Skin 2 No  (1/584)  (2/2)  Section images
Small intestine 2 No  (9/584)  (2/2)  Section images
Spinal cord 2 No  (3/584)  (2/2)  Section images
Spleen 2 No  (3/584)  (2/2)  Section images
Stomach 2 No  (12/584)  (2/2)  Section images
Striatum 2 No  (3/584)  (2/2)  Section images
Submandibular gland 2 No  (2/131)  (2/2)  Section images
Testis 2 No  (6/584)  (1/2)  Section images
Thalamus 2 No  (2/2)  Section images
Thymus 2 No  (1/584)  (2/2)  Section images
Thyroid gland 2 No  (16/584)  (2/2)  Section images
Trachea 2 No  (3/584)  (2/2)  Section images
Urinary bladder 2 No  (2/2)  Section images
Uterus 2 No  (1/2)  Section images
Vascular system 2 No  (2/2)  Section images
Vesicular gland 2 No N/A
White adipose tissue 2 No  (2/2)  Section images
 Expression  No Expression  Ambiguous  No Tissue Available
Anatomy #HET Specimens WT Expr Mutant Expr Images
Brain 2  (6/507)  (2/2) N/A
Dorsal root ganglion 2  (1/59) Image Only N/A
Ear 2  (1/507)  (2/2) N/A
Embryo 2  (1/508)  (2/2)  Wholemount images
Eye 2  (1/507)  (2/2) N/A
Footplate 2  (1/507)  (2/2) N/A
Forebrain 2  (1/507)  (2/2) N/A
Forelimb 2  (1/507)  (2/2) N/A
Fronto-nasal process 2  (1/60) Image Only N/A
Handplate 2  (1/507)  (2/2) N/A
Head 2  (5/507)  (2/2) N/A
Heart 2  (1/507)  (2/2) N/A
Hindbrain 2  (6/507)  (2/2) N/A
Hindlimb 2  (1/507)  (2/2) N/A
Liver 2  (1/502)  (2/2) N/A
Lung 2  (1/502) Image Only N/A
Mandibular process 2  (1/507)  (2/2) N/A
Maxillary process 2  (1/507)  (2/2) N/A
Midbrain 2  (1/507)  (1/2) N/A
Nose 2  (1/77)  (2/2) N/A
Oral cavity 2  (1/502) Image Only N/A
Skin 2  (1/507)  (2/2) N/A
Spinal cord 2  (1/71)  (2/2) N/A
Tail 2  (1/507)  (2/2) N/A
Tail somite group 2  (1/507)  (2/2) N/A

 Associated Images

X-ray: XRay Images Skull Dorso Ventral Orientation
10 Images
Sleep Wake: Wake state (bmp file)
10 Images
Original Image
Adult LacZ: LacZ Images Section
41 Images
X-ray: XRay Images Forepaw
10 Images
X-ray: XRay Images Whole Body Lateral Orientation
10 Images
X-ray: XRay Images Skull Lateral Orientation
10 Images
Embryo LacZ: LacZ images wholemount
8 Images
X-ray: XRay Images Whole Body Dorso Ventral
10 Images
Eye Morphology: Images Ophthalmoscopy
6 Images
Auditory Brain Stem Response: Click-evoked + 6 to 30kHz tone waveforms (pdf format)
7 Images
Electroretinography 2: Rod and cone PDF
4 Images

 Disease Models

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 Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hmbstm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hmbstm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice

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