Gene Summary

Name:
S-adenosylhomocysteine hydrolase
Synonyms:
SAHH,  CuBP

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 basophil cell number Ahcytm1b(EUCOMM)Hmgu HET Early adult 5.99×10-05
embryonic lethality prior to organogenesis Ahcytm1b(EUCOMM)Hmgu HOM   E9.5 0.00
preweaning lethality, complete penetrance Ahcytm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased grip strength Ahcytm1b(EUCOMM)Hmgu HET Early adult 5.17×10-05
embryonic lethality prior to tooth bud stage Ahcytm1b(EUCOMM)Hmgu HOM   E12.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 66.67% (2 of 3)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 66.67% (2 of 3)
Embryo N/A heterozygote 100% (3 of 3)
Eye N/A heterozygote 66.67% (2 of 3)
Footplate N/A heterozygote 66.67% (2 of 3)
Forebrain N/A heterozygote 66.67% (2 of 3)
Forelimb N/A heterozygote 66.67% (2 of 3)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 66.67% (2 of 3)
Head N/A heterozygote 66.67% (2 of 3)
Heart N/A heterozygote 66.67% (2 of 3)
Hindbrain N/A heterozygote 66.67% (2 of 3)
Hindlimb N/A heterozygote 66.67% (2 of 3)
Liver N/A heterozygote 66.67% (2 of 3)
Lung N/A heterozygote 66.67% (2 of 3)
Mandibular process N/A heterozygote 66.67% (2 of 3)
Maxillary process N/A heterozygote 66.67% (2 of 3)
Midbrain N/A heterozygote 66.67% (2 of 3)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 66.67% (2 of 3)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 66.67% (2 of 3)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 66.67% (2 of 3)
Tail N/A heterozygote 66.67% (2 of 3)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)

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)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin Ambiguous
spinal cord Ambiguous
tail Ambiguous
tail somite group Ambiguous
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

Combined SHIRPA and Dysmorphology

Images

2 Images

Immunophenotyping

Panel B FCS file(s)

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Embryo LacZ

LacZ images wholemount

53 Images

Immunophenotyping

Panel A FCS file(s)

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

Human diseases caused by Ahcy 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.

The table below shows human diseases associated to Ahcy by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy ORPHA:88618

The table below shows human diseases predicted to be associated to Ahcy by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy ORPHA:88618

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 Ahcy

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 Ahcy.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ahcytm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Ahcytm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ahcytm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ahcytm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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