Phenotypes associated with this allele

• Allele Symbol: Hspb7^tm1.1Yty
• Allele Name: targeted mutation 1.1 Yu-Ting Yan
• Allele ID: MGI:6116704
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Hspb7^tm1.1Yty/Hspb7^tm1.1Yty Tg(ACTA1-cre)79Jme/0	involves: 129 * C57BL/6J * SJL	MGI:6118901

Genotype
MGI:6118901

cn1

• Allelic Composition: Hspb7^tm1.1Yty/Hspb7^tm1.1Yty; Tg(ACTA1-cre)79Jme/0
• Genetic Background: involves: 129 * C57BL/6J * SJL

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

mortality/aging

premature death ( J:246267 )

• all mice die between P1 and P60

postnatal lethality, incomplete penetrance ( J:246267 )

• mice start to die within the first week after birth

muscle

abnormal sarcomere morphology ( J:246267 )

• disorganized the diaphragm at 6 months, including sarcomeric Z- line streaming, the insertion of an additional sarcomere, and myofibrillar disorganization with focal loss of cross-striation

abnormal Z line morphology ( J:246267 )

• Z-line streaming, causing filament disruption, and Z-line disruption are observed in the diaphragm muscle

centrally nucleated skeletal muscle fibers ( J:246267 )

• at 36 weeks in diaphragm muscles

abnormal diaphragm morphology ( J:246267 )

• fibrosis at 12 weeks

• disorganized sarcomeres in the diaphragm at 6 months, including sarcomeric Z-line streaming, the insertion of an additional sarcomere, and myofibrillar disorganization with focal loss of cross-striation

• diaphragm muscle exhibits filament disruption, small rod bodies and vacuoles and central nuclei

• irreversible aggregation of filamin C and sarcoglycans

• reduced muscle mass with reduced muscle weight at 12 weeks

• however, diaphragm is normal at P1

skeletal muscle fibrosis ( J:246267 )

• in the diaphragm, but not the soleus, at 2 weeks

myopathy ( J:246267 )

• progressive

respiratory system

abnormal respiratory function ( J:246267 )

• elevated enhanced pause

abnormal forced expiratory flow rates ( J:246267 )

• increased respiratory peak expiration flow and relaxation time at lower breath frequency

homeostasis/metabolism

increased circulating creatine kinase level ( J:246267 )

• at 36 weeks

growth/size/body

decreased body weight ( J:246267 )

• after 40 weeks

behavior/neurological

decreased grip strength ( J:246267 )

• at 36 weeks with progressive myopathy