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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Med30m1Btlr
mutation 1, Bruce Beutler
MGI:5306897
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Med30m1Btlr/Med30m1Btlr involves: C57BL/6J MGI:5306911
ht2
 		Med30Gt(CH0776)Wtsi/Med30m1Btlr involves: 129P2/OlaHsd * C57BL/6J MGI:5308994


Genotype
MGI:5306911
hm1
Allelic
Composition		 Med30m1Btlr/Med30m1Btlr
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Med30m1Btlr mutation (1 available); any Med30 mutation (9 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:180728 )
• by 7 weeks of age, mice die of progressive and rapid wasting disease associated with progressive cardiomyopathy
• however, survival is improved by a keotgenic diet

cardiovascular system
abnormal myocardial fiber morphology ( J:180728 )
• cardiomyocytes exhibit disorganized Z-band pattern and shortening of I-bands compared with wild-type mice
cardiac fibrosis ( J:180728 )
• myocardial fibrosis
internal hemorrhage ( J:180728 )
• in some mice
cardiomyopathy ( J:180728 )
• mice die of progressive cardiomyopathy by 7 weeks of age

muscle
abnormal myocardial fiber morphology ( J:180728 )
• cardiomyocytes exhibit disorganized Z-band pattern and shortening of I-bands compared with wild-type mice
cardiomyopathy ( J:180728 )
• mice die of progressive cardiomyopathy by 7 weeks of age
abnormal sarcomere morphology ( J:180728 )
• cardiomyocytes exhibit disorganized Z-band pattern and shortening of I-bands compared with wild-type mice
abnormal I band morphology ( J:180728 )
• shortening of I-bands in cardiomyocytes
abnormal Z line morphology ( J:180728 )
• disorganized in cardiomyocytes

hematopoietic system

growth/size/body
cachexia ( J:180728 )

cellular
abnormal mitochondrial morphology ( J:180728 )
• mitochondrial exhibit deterioration and dysfunction
abnormal mitochondrial physiology ( J:180728 )
• mitochondrial exhibit deterioration and dysfunction




Genotype
MGI:5308994
ht2
Allelic
Composition		 Med30Gt(CH0776)Wtsi/Med30m1Btlr
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Med30Gt(CH0776)Wtsi mutation (0 available); any Med30 mutation (9 available)
Med30m1Btlr mutation (1 available); any Med30 mutation (9 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging




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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Send questions and comments to User Support. 		last database update
11/05/2024
MGI 6.24 		The Jackson Laboratory