Krt12 MGI Mouse Gene Detail - MGI:96687

Symbol

Krt12
Name

keratin 12
Synonyms

K12, Krt1-12

Feature Type

protein coding gene
IDs

MGI:96687
NCBI Gene: 268482
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr11:99306492-99313085 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 62.92 cM
Mapping Data

9 experiments

SNPs within 2kb

350 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_96687	protein coding gene	Chr11:99306490-99313419 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0019092	protein coding gene	Chr11:102081014-102087593 (-)
A/J	MGP_AJ_G0019060	protein coding gene	Chr11:97783245-97789814 (-)
AKR/J	MGP_AKRJ_G0019030	protein coding gene	Chr11:100818047-100824631 (-)
BALB/cJ	MGP_BALBcJ_G0019034	protein coding gene	Chr11:98292842-98299411 (-)
C3H/HeJ	MGP_C3HHeJ_G0018847	protein coding gene	Chr11:100969209-100975779 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019485	protein coding gene	Chr11:105220731-105227324 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017117	protein coding gene	Chr11:95345288-95351846 (-)
CAST/EiJ	MGP_CASTEiJ_G0018402	protein coding gene	Chr11:101966860-101973462 (-)
CBA/J	MGP_CBAJ_G0018818	protein coding gene	Chr11:109606044-109612623 (-)
DBA/2J	MGP_DBA2J_G0018926	protein coding gene	Chr11:97350481-97357047 (-)
FVB/NJ	MGP_FVBNJ_G0018915	protein coding gene	Chr11:96860982-96867560 (-)
LP/J	MGP_LPJ_G0018996	protein coding gene	Chr11:102548582-102555159 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018942	protein coding gene	Chr11:109276535-109283148 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019525	protein coding gene	Chr11:101176931-101183507 (-)
PWK/PhJ	MGP_PWKPhJ_G0018173	protein coding gene	Chr11:98422911-98429488 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0017961	protein coding gene	Chr11:100934183-100940643 (-)
WSB/EiJ	MGP_WSBEiJ_G0018450	protein coding gene	Chr11:101153327-101159897 (-)

Human Ortholog

KRT12, keratin 12

Vertebrate Orthologs

12

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KRT12, keratin 12
Synonyms

K12, MECD1
Links

HGNC:6414

NCBI Gene ID: 3859

neXtProt AC: NX_Q99456

UniProt: Q99456
Chr Location

17q21.2; chr17:40861303-40867223 (-) GRCh38

MGI Vertebrate Homology

Krt12 stringent orthology
1 human;1 mouse;1 rat;10 zebrafish
HCOP

vertebrate homology predictions: KRT12
Gene Tree

Krt12

Diseases

2 with human KRT12 associations

				Human Disease	Mouse Models
				corneal dystrophy IDs corneal dystrophy DOID:2566 DOID:8944 ICD10CM:H18.5 ICD9CM:371.5 ICD9CM:371.50 MESH:D003317 NCI:C34512 NCI:C34513 UMLS_CUI:C0010035 UMLS_CUI:C0010036
				Meesmann corneal dystrophy 1 IDs Meesmann corneal dystrophy 1 DOID:0080670 OMIM:122100

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

3 phenotypes from 2 alleles in 2 genetic backgrounds
4 phenotypes from multigenic genotypes
32 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

9
Targeted

9
Genomic Mutations

2 involving Krt12
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

24 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygous null mutants display abnormal and fragile corneal epithelium.

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All GO Annotations

12
GO References

6

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

793
Tissues

23
cDNA Data

16
Literature Summary

46

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase krt12, krt12.2, krt12.3, krt12.4, krt12.5, krt12.6

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All Sequences

35
RefSeq

4
UniProt

2
CCDS

CCDS36306.1

Ensembl

ENSMUSG00000020912 (Evidence)
NCBI Gene

268482

			Length	Strain/Species	Flank
genomic	ENSMUSG00000020912	Ensembl Gene Model \| MGI Sequence Detail	6594	C57BL/6J	± kb
transcript	ENSMUST00000017741	Ensembl \| MGI Sequence Detail	1852	Not Applicable
polypeptide	ENSMUSP00000017741	Ensembl \| MGI Sequence Detail	487	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000009452 keratin, type I cytoskeletal 12

(term hierarchy)
InterPro Domains

IPR018039 Intermediate filament protein, conserved site

IPR039008 Intermediate filament, rod domain

IPR002957 Keratin, type I
GlyGen

Q64291 1 site, 1 O-linked glycan (1 site)

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All nucleic 23

Genomic 5

cDNA 16

Primer pair 2

Microarray probesets 4

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MGD-MRK-11642, MGI:2144270

Summaries

All 106

Developmental Gene Expression 46

Diseases 1

Gene Ontology 6

Phenotypes 32
Earliest

J:16837 Liu CY, et al., Cornea-specific expression of K12 keratin during mouse development. Curr Eye Res. 1993 Nov;12(11):963-74
Latest

J:346907 Sunny SS, et al., Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence. Hum Mol Genet. 2024 Feb 28;33(6):491-500

TSS for Krt12:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr110668	Chr11:99313078-99313086 (-)	3 bp
Tssr110667	Chr11:99309254-99309266 (-)	3,825 bp
Tssr110666	Chr11:99309216-99309253 (-)	3,850 bp
Tssr110665	Chr11:99307795-99307813 (-)	5,281 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24