Gene Summary

Name:
aminoadipate-semialdehyde synthase
Synonyms:
Lorsdh,  LOR/SDH

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
enlarged lymph nodes Aassem1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Aassem1(IMPC)Tcp HOM Early adult 0.00
enlarged urinary bladder Aassem1(IMPC)Tcp HOM Early adult 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

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

99 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

7 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Aass 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 Aass by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperlysinemia, Type I
Hyperlysinuria OMIM:238700
Saccharopinuria
Citrullinuria, Hyperlysinuria, Cystinuria ORPHA:3124
Hyperlysinemia
Decreased urine alpha-ketoglutarate concentration, Argininuria, Hyperlysinuria, Cystinuria ORPHA:2203

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypopl... OMIM:602450
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils, Hepatomegaly ORPHA:276
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Lymph node hypoplasia OMIM:613179
Craniorachischisis
Bifid sternum ORPHA:63260
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Hyperlysinemia, Type I
Hyperlysinuria OMIM:238700
Saccharopinuria
Citrullinuria, Hyperlysinuria, Cystinuria ORPHA:3124
Hyperlysinemia
Decreased urine alpha-ketoglutarate concentration, Argininuria, Hyperlysinuria, Cystinuria ORPHA:2203

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 Aass

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 Aass.

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

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
Aasstm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Aasstm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aassem1(IMPC)Tcp Exon Deletion Mice

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