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Insrtm1Dac
Targeted Allele Detail

Nomenclature
Symbol: Insrtm1Dac
Name: insulin receptor; targeted mutation 1, Domenico Accili
MGI ID: MGI:1857204
Synonyms: Insr-, IR-, IRKO, L1
Gene: Insr   Location: Chr8:3150922-3279617 bp, - strand    Genetic Position: Chr8, 1.0 cM
Mutation
origin
Germline Transmission: Earliest citation of germline transmission: J:33408
Parent Cell Line: J1 (ES Cell)
Strain of Origin: 129S4/SvJae
Mutation
description
Allele Type: Targeted (knock-out)
Mutation: Insertion
  A premature chain termination was introduced downstream from codon 306 of exon 4 of the gene. Western blots of brain extracts from homozygous mutant mice showed no detectable insulin receptor protein. Reverse transcriptase-PCR of RNA isolated from brain, liver and skeletal muscle showed no transcript. (J:33408)
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 Insr Mutation: 28 strains or lines available
Expression
In Mice Carrying this Mutation: 10 assay results
Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

      Key:  
hm homozygous ht heterozygous
cn conditional genotype  cx complex: > 1 genome feature
tg involves transgenes ot other: hemizygous, indeterminate,...
N normal phenotype expected model not found
Affected SystemsGenotypes:
 
hm1
 
ht2
 
ht3
 
cn4
 
cx5
 
cx6
 
cx7
 
cx8
 
cx9
 
cx10
 
cx11
 
cx12
 
cx13
  
digestive/alimentary system          		 √√ √   √    
  
endocrine/exocrine glands          		 √√ √   √    
  
homeostasis/metabolism          		√√√√√   √√√N√
  
lethality/postnatal          		√       √√√  
  
liver/biliary system          		√            
  
renal/urinary system          		√        √   
  
reproductive system          		     √√√     
 
  
Disease Models          		            
Phenotypic
data by
genotype
Phenotypic Data by Genotype

(show or hide all phenotypic details)

GenotypeAllelic CompositionGenetic Background
  
 hm1   		 Insrtm1Dac/Insrtm1Dac involves: 129S4/SvJae * C57BL/6
  
 ht2   		 Insrtm1Dac/Insr+ involves: 129 * C57BL/6J
  
 ht3   		 Insrtm1Dac/Insr+ involves: C3H/HeH * C57BL/6
  
 cn4   		 Insrtm1Khn/Insrtm1Dac
Tg(Ckmm-cre)5Khn/0		 involves: 129S4/SvJae * C57BL/6J * FVB
  
 cx5   		 Gsk3btm1Jrw/Gsk3b+
Insrtm1Dac/Insr+		 involves: 129 * C57BL/6J
  
 cx6   		 Igf1rtm1Arge/Igf1rtm1Arge
Insrtm1Dac/Insrtm1Dac
Insrrtm1Dac/Insrrtm1Dac		 involves: 129S/SvEv * 129S1/Sv * 129S4/SvJae * C57BL/6J
  
 cx7   		 Igf1rtm1Arge/Igf1rtm1Arge
Insrtm1Dac/Insr+
Insrrtm1Dac/Insrrtm1Dac		 involves: 129S/SvEv * 129S1/Sv * 129S4/SvJae * C57BL/6J
  
 cx8   		 Igf1rtm1Arge/Igf1rtm1Arge
Insrtm1Dac/Insrtm1Dac		 involves: 129S/SvEv * 129S4/SvJae * C57BL/6J
  
 cx9   		 Insrtm1Dac/Insr+
Irs2tm1Mfw/Irs2tm1Mfw		 involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6
  
 cx10   		 Insrtm1Dac/Insrtm1Dac
Insrrtm1Dac/Insrrtm1Dac		 involves: 129S1/Sv * 129S4/SvJae * C57BL/6J
  
 cx11   		 Foxo1tm1Whb/Foxo1+
Insrtm1Dac/Insrtm1Dac		 involves: 129S4/SvJae * C57BL/6
  
 cx12   		 Foxo1tm1Whb/Foxo1+
Insrtm1Dac/Insr+		 involves: 129S4/SvJae * C57BL/6
  
 cx13   		 Insrtm1Dac/Insr+
Sox4Igt4/Sox4+		 involves: C3H/HeH * C57BL/6
Disease
models
Mouse Models
of Human Disease
NoteGenotypeRef(s)
 
Allelic Composition
Genetic Background
No similarity to expected human disease phenotype was found.1
NOT Donohue Syndrome
OMIM ID: 246200		  
 
hm1		Insrtm1Dac/Insrtm1Dacinvolves: 129S4/SvJae * C57BL/6J:33408
1One or more human genes may be associated with the human disease. The mouse genotype may involve mutations in orthologous genes, but the phenotype did not resemble the human disease.
References
Original: J:33408 Accili D et al., "Early neonatal death in mice homozygous for a null allele of the insulin receptor gene." Nat Genet 1996 Jan;12(1):106-9
All: 32 reference(s)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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11/20/2009
MGI_4.31
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