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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Mtm1tm1Itl
targeted mutation 1, inGenious Targeting Laboratory
MGI:5307232
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
ot1
 		Mtm1tm1Itl/Y B6.Cg-Mtm1tm1Itl MGI:5307261


Genotype
MGI:5307261
ot1
Allelic
Composition		 Mtm1tm1Itl/Y
Genetic
Background		 B6.Cg-Mtm1tm1Itl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mtm1tm1Itl mutation (1 available); any Mtm1 mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:179741 )
• mean survival is 54 weeks (median 66 weeks) with cardiorespiratory insufficiency

reproductive system
reproductive system phenotype ( J:179741 )
N
• male mice exhibit normal spermatogenesis
reduced male fertility ( J:179741 )
• male mice exhibit reduced fertility due to muscle defects

muscle
abnormal gastrocnemius morphology ( J:179741 )
• increased in size compared to in Mtm1tm1.1Jman homozygotes
decreased skeletal muscle fiber size ( J:179741 )
• at 3 months, pharyngeal and laryngeal muscles exhibit numerous small fibers with central nuclei unlike in wild-type mice
centrally nucleated skeletal muscle fibers ( J:179741 )
• at 1, 2 and 9 months in skeletal muscles
• at 3 months, pharyngeal and laryngeal muscles exhibit numerous small fibers with central nuclei unlike in wild-type mice
decreased skeletal muscle mass ( J:179741 )
• quadriceps, gastrocnemius, tibialis anterior, and triceps
skeletal muscle atrophy ( J:179741 )
• less severe than in Mtm1tm1.1Jman homozygotes
progressive muscle weakness ( J:179741 )
• starting at 2 months of age

growth/size/body
decreased body weight ( J:179741 )
• when fed a high-fat diet
decreased susceptibility to diet-induced obesity ( J:179741 )
• when fed a high-fat diet

cardiovascular system
abnormal cardiovascular system physiology ( J:179741 )
• mice die due to cardiorespiratory insufficiency

homeostasis/metabolism

liver/biliary system
liver/biliary system phenotype ( J:179741 )
N
• mice exhibit normal liver morphology

respiratory system
abnormal respiratory system physiology ( J:179741 )
• mice die due to cardiorespiratory insufficiency
respiratory distress ( J:179741 )
• towards end of life

behavior/neurological
behavior/neurological phenotype ( J:179741 )
N
• mice do not exhibit reduced grip strength, hypoactivity or reduced rearing as in Mtm1tm1.1Jman homozygotes
abnormal gait ( J:179741 )
• shuffling
abnormal vocalization ( J:179741 )
• chirp-like noise related to respiratory activity

limbs/digits/tail
abnormal gastrocnemius morphology ( J:179741 )
• increased in size compared to in Mtm1tm1.1Jman homozygotes




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
12/10/2024
MGI 6.24 		The Jackson Laboratory