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Itgavtm2Hyn
Targeted Allele Detail
Summary
Symbol: Itgavtm2Hyn
Name: integrin alpha V; targeted mutation 2, Richard Hynes
MGI ID: MGI:3759836
Synonyms: alphavflox
Gene: Itgav  Location: Chr2:83554796-83637261 bp, + strand  Genetic Position: Chr2, 49.33 cM
Alliance: Itgavtm2Hyn page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:94376
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
 
Mutation detailsA floxed neo cassette was inserted at the 5' start of exon 4 and additional loxP site was inserted downstream of exon 4 to create a floxed allele. The neo cassette was removed by cre-mediated recombination (source not specified). Insertion was confirmed by PCR and Southern blot. (J:94376, J:125508)
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
Allelic CompositionGenetic BackgroundCell Line(s)
involves: 129 * C57BL/6 * SJL
 
involves: 129 * C57BL/6 * SJL
 
involves: 129 * C57BL/6 * SJL
 
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * FVB
 
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * FVB
 
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * FVB * SJL
 
involves: 129P2/OlaHsd * C57BL/6 * CBA
 
involves: 129P2/OlaHsd * C57BL/6 * SJL
 
involves: 129S2/SvPas * C57BL/6 * FVB * SJL
 
Phenotypes:
Affected Systems
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behavior/neurological
abnormal motor capabilities/coordination/movement
abnormal involuntary movement
ataxia
impaired coordination
impaired limb coordination
abnormal posture
abnormal gait
paraparesis
seizures
convulsive seizures
cardiovascular system
N
cardiovascular system phenotype
N
retroesophageal right subclavian artery
vascular ring
abnormal ascending aorta morphology
abnormal brain vasculature morphology
patent ductus arteriosus
ventricular septal defect
intracranial hemorrhage
cerebellum hemorrhage
intracerebral hemorrhage
spinal hemorrhage
cellular
patent ductus arteriosus
abnormal cell adhesion
abnormal dendritic cell differentiation
impaired macrophage phagocytosis
digestive/alimentary system
N
digestive/alimentary phenotype
N
abnormal intestinal epithelium morphology
crypts of Lieberkuhn abscesses
intestinal ulcer
increased intestinal adenocarcinoma incidence
large intestinal inflammation
colitis
endocrine/exocrine glands
crypts of Lieberkuhn abscesses
growth/size/body
weight loss
hematopoietic system
impaired macrophage phagocytosis
abnormal leukocyte morphology
abnormal dendritic cell differentiation
decreased regulatory T cell number
increased regulatory T cell number
homeostasis/metabolism
abnormal interferon level
abnormal interleukin level
abnormal tumor necrosis factor level
immune system
abnormal immune system morphology
abnormal leukocyte morphology
abnormal dendritic cell differentiation
decreased regulatory T cell number
increased regulatory T cell number
enlarged Peyer's patches
enlarged mesenteric lymph nodes
abnormal immune system physiology
impaired macrophage phagocytosis
abnormal interferon level
abnormal interleukin level
abnormal tumor necrosis factor level
increased autoantibody level
increased inflammatory response
large intestinal inflammation
colitis
increased susceptibility to bacterial infection induced morbidity/mortality
mortality/aging
increased susceptibility to bacterial infection induced morbidity/mortality
premature death
lethality throughout fetal growth and development, complete penetrance
postnatal lethality, incomplete penetrance
muscle
muscle phenotype
N
muscle hypertonia
neoplasm
increased intestinal adenocarcinoma incidence
nervous system
nervous system phenotype
N
seizures
convulsive seizures
abnormal brain vasculature morphology
intracranial hemorrhage
cerebellum hemorrhage
intracerebral hemorrhage
spinal hemorrhage
abnormal glial cell morphology
gliosis
abnormal embryonic/fetal subventricular zone morphology
axon degeneration
axonal dystrophy
demyelination
renal/urinary system
abnormal renal/urinary system physiology
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 17 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Itgavtm2Hyn
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Itgav Mutation:  53 strains or lines available
References
Original:  J:94376 McCarty JH, et al., Selective ablation of {alpha}v integrins in the central nervous system leads to cerebral hemorrhage, seizures, axonal degeneration and premature death. Development. 2005 Jan;132(1):165-176
All:  35 reference(s)

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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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory

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