All Phenotypes Mtm1<tm1Itl> MGI Mouse

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

decreased quadriceps weight ( J:179741 )

abnormal gastrocnemius morphology ( J:179741 )

• increased in size compared to in Mtm1^tm1.1Jman homozygotes

decreased gastrocnemius weight ( J:179741 )

decreased tibialis anterior weight ( J:179741 )

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

increased variability of skeletal muscle fiber size ( J:179741 )

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 Mtm1^tm1.1Jman 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

decreased susceptibility to diet-induced obesity ( J:179741 )

• when fed a high-fat diet

liver/biliary system

liver/biliary system phenotype ( J:179741 )

N	• mice exhibit normal liver morphology

respiratory system

respiratory system phenotype ( J:179741 )

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 Mtm1^tm1.1Jman homozygotes

abnormal gait ( J:179741 )

• shuffling

abnormal vocalization ( J:179741 )

• chirp-like noise related to respiratory activity

limbs/digits/tail

decreased quadriceps weight ( J:179741 )

abnormal gastrocnemius morphology ( J:179741 )

• increased in size compared to in Mtm1^tm1.1Jman homozygotes

decreased gastrocnemius weight ( J:179741 )

decreased tibialis anterior weight ( J:179741 )

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

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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