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Krit1 Gene Detail
Summary
  • Symbol
    Krit1
  • Name
    KRIT1, ankyrin repeat containing
  • Synonyms
    2010007K12Rik, A630036P20Rik, Ccm1, Krit1, Krit1A, Krit1B
  • Feature Type
    protein coding gene
  • IDs
    MGI:1930618
    NCBI Gene: 79264
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:3853156-3894515 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 2.26 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    916 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1930618
 protein coding gene Chr5:3853156-3895564 (+)
129S1/SvImJ ENSMUSG00200002304
 protein coding gene Chr5:449667-492232 (+)
A/J ENSMUSG00195007275
 protein coding gene Chr5:518103-560659 (+)
AKR/J ENSMUSG00220002020
 protein coding gene Chr5:449757-492321 (+)
BALB/cJ ENSMUSG00180015628
 protein coding gene Chr5:279275-321830 (+)
C3H/HeJ ENSMUSG00175026766
 protein coding gene Chr5:454931-497484 (+)
C57BL/6NJ ENSMUSG00215013306
 protein coding gene Chr5:758979-801542 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026937
 protein coding gene Chr5:524958-572535 (+)
CAST/EiJ ENSTCUG00005001560
 protein coding gene Chr5:669459-712061 (+)
CBA/J ENSMUSG00210002409
 protein coding gene Chr5:819617-862182 (+)
DBA/2J ENSMUSG00185027729
 protein coding gene Chr5:823254-865808 (+)
FVB/NJ ENSMUSG00205006888
 protein coding gene Chr5:518204-560755 (+)
JF1/MsJ ENSUMUG00000001439
 protein coding gene Chr5:847089-890271 (+)
LP/J ENSMUSG00230003109
 protein coding gene Chr5:4694207-4736772 (+)
NOD/ShiLtJ ENSMUSG00190011435
 protein coding gene Chr5:461584-504684 (+)
NZO/HlLtJ ENSMUSG00225006528
 protein coding gene Chr5:8529761-8572325 (+)
PWK/PhJ ENSLUMG00010019482
 protein coding gene Chr5:804539-847366 (+)
SPRET/EiJ ENSMSPG00010004856
 protein coding gene Chr5:649046-688927 (+)
WSB/EiJ ENSIUOG00005025464
 protein coding gene Chr5:516843-559379 (+)



Homology
more
  • Human Ortholog
    KRIT1, KRIT1 ankyrin repeat containing
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KRIT1, KRIT1 ankyrin repeat containing
  • Synonyms
    CAM, CCM1
  • Links
    NCBI Gene ID: 889
    UniProt: O00522

  • Chr Location
    7q21.2; chr7:92197498-92246166 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Krit1 mouse models; 2 with human KRIT1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    43 phenotypes from 6 alleles in 8 genetic backgrounds
    3 phenotypes from multigenic genotypes
    44 phenotype references
Phenotype Overview

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.
Targeted disruption of this gene results in embryonic lethality by E11. Embryos display prominent vascular defects that disrupt arterial modeling and phenocopy the human disorder of cerebral cavernous malformations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    55
  • GO References
    15
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.
Expression
less
Expression Overview

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
    1036
  • Tissues
    282
  • cDNA Data
    29
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 79264 NCBI Gene Model | MGI Sequence Detail 41360 C57BL/6J ±  kb
    transcript NR_033173 RefSeq | MGI Sequence Detail 6352 ZRU/MplStud  
    polypeptide Q6S5J6 UniProt | EBI | MGI Sequence Detail 736 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 34
      cDNA 33
      Primer pair 1

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGI:1917359, MGI:2140894, MGI:2140944, MGI:2444493, MGI:3034244, MGI:3034645, MGI:3035098
    References
    more
    • Summaries
      All 101
      Developmental Gene Expression 10
      Diseases 2
      Gene Ontology 15
      Phenotypes 44
    • Earliest
      J:66942 Zhang J, et al., Cloning of the Murine Krit1 cDNA Reveals Novel Mammalian 5' Coding Exons. Genomics. 2000 Dec 15;70(3):392-5
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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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    Funding Information
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    09/01/2026
    MGI 6.24     		The Jackson Laboratory