Sord MGI Mouse Gene Detail - MGI:98266

Symbol

Sord
Name

sorbitol dehydrogenase
Synonyms

Sdh-1, Sdh1, Sodh-1

Feature Type

protein coding gene
IDs

MGI:98266
NCBI Gene: 20322
Alliance

genome feature page
Transcription Start Sites

6 TSS

Sequence Map

Chr2:122065320-122095818 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 60.59 cM
Mapping Data

6 experiments

SNPs within 2kb

825 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_98266	protein coding gene	Chr2:122065230-122095821 (+)
129S1/SvImJ	ENSMUSG00200042822	protein coding gene	Chr2:118995339-119027078 (+)
A/J	ENSMUSG00195023569	protein coding gene	Chr2:119040806-119072005 (+)
AKR/J	ENSMUSG00220042181	protein coding gene	Chr2:118957739-118989489 (+)
BALB/cJ	ENSMUSG00180044072	protein coding gene	Chr2:118841557-118872755 (+)
C3H/HeJ	ENSMUSG00175024875	protein coding gene	Chr2:119315445-119346643 (+)
C57BL/6NJ	ENSMUSG00215024084	protein coding gene	Chr2:118984084-119014671 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024209	protein coding gene	Chr2:115080351-115112037 (+)
CAST/EiJ	ENSTCUG00005015890	protein coding gene	Chr2:118247446-118278751 (+)
CBA/J	ENSMUSG00210007145	protein coding gene	Chr2:119156307-119187503 (+)
DBA/2J	ENSMUSG00185043771	protein coding gene	Chr2:118838681-118869875 (+)
FVB/NJ	ENSMUSG00205039447	protein coding gene	Chr2:118058101-118089849 (+)
JF1/MsJ	ENSUMUG00000011842	protein coding gene	Chr2:118732354-118762952 (+)
LP/J	ENSMUSG00230020651	protein coding gene	Chr2:120654854-120686592 (+)
NOD/ShiLtJ	ENSMUSG00190034743	protein coding gene	Chr2:119082229-119113972 (+)
NZO/HlLtJ	ENSMUSG00225004379	protein coding gene	Chr2:128562930-128594124 (+)
PWK/PhJ	ENSLUMG00010042616	protein coding gene	Chr2:118669384-118700020 (+)
SPRET/EiJ	ENSMSPG00010036423	protein coding gene	Chr2:121065371-121095989 (+)
WSB/EiJ	ENSIUOG00005021480	protein coding gene	Chr2:118805524-118837269 (+)

Human Ortholog

SORD, sorbitol dehydrogenase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SORD, sorbitol dehydrogenase
Synonyms

HEL-S-95n, HMNR8, RDH, SDH, SORD1, SORDD, XDH
Links

HGNC:11184

NCBI Gene ID: 6652

UniProt: Q00796
Chr Location

15q21.1; chr15:45023147-45077185 (+) GRCh38

MGI Vertebrate Homology

Sord stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SORD
Gene Tree

Sord

Diseases

1 with Sord mouse models; 1 with human SORD associations

Human Disease

Mouse Models

cataract

IDs

View 1 model

autosomal recessive distal hereditary motor neuronopathy 8

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

9 phenotypes from 3 alleles in 4 genetic backgrounds
3 phenotypes from multigenic genotypes
20 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Chemically induced (other)

1
Endonuclease-mediated

6
Radiation induced

1
Spontaneous

1
Targeted

2
Genomic Mutations

2 involving Sord
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

21 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a functional null allele found in strain C57BL/LiA exhibit no obvious abnormalities in the kidney or other physiological systems. An additional isoelectric focusing variant is found in Peru stocks and has about 25% of the activity of that in most inbred strains. Mice homozygous for a null allele exhibit impaired glucose tolerance.

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All GO Annotations

58
GO References

21

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

876
Tissues

275
cDNA Data

20
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sord

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All Sequences

62
RefSeq

2
UniProt

1
CCDS

CCDS16657.1

Ensembl

ENSMUSG00000027227 (Evidence)
NCBI Gene

20322

			Length	Strain/Species	Flank
genomic	20322	NCBI Gene Model \| MGI Sequence Detail	30499	C57BL/6J	± kb
transcript	NM_146126	RefSeq \| MGI Sequence Detail	2259	ZRU/MplStud
polypeptide	Q64442	UniProt \| EBI \| MGI Sequence Detail	357	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000015410 sorbitol dehydrogenase

(term hierarchy)
EC

1.1.1.-, 1.1.1.14, 1.1.1.9
InterPro Domains

IPR013149 Alcohol dehydrogenase-like, C-terminal

IPR013154 Alcohol dehydrogenase-like, N-terminal

IPR002328 Alcohol dehydrogenase, zinc-type, conserved site

IPR020843 Enoylreductase domain

IPR011032 GroES-like superfamily

IPR036291 NAD(P)-binding domain superfamily

IPR045306 Sorbitol dehydrogenase-like
GlyGen

Q64442 1 site, 1 O-linked glycan (1 site)

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All nucleic 24

cDNA 21

Primer pair 3

Microarray probesets 3

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MGD-MRK-14340, MGD-MRK-14341, MGD-MRK-35108

Summaries

All 71

Developmental Gene Expression 5

Diseases 1

Gene Ontology 21

Phenotypes 20
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Sord:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr19834	Chr2:122065259-122065303 (+)	-39 bp
Tssr19835	Chr2:122065314-122065322 (+)	-2 bp
Tssr19836	Chr2:122089065-122089082 (+)	23,754 bp
Tssr19837	Chr2:122095232-122095245 (+)	29,919 bp
Tssr19838	Chr2:122095296-122095305 (+)	29,981 bp
Tssr19839	Chr2:122095335-122095355 (+)	30,025 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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