Phenotypes associated with this allele

• Allele Symbol: Atp2a1^tm1Dhm
• Allele Name: targeted mutation 1, David H MacLennon
• Allele ID: MGI:2656945
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atp2a1^tm1Dhm/Atp2a1^tm1Dhm	involves: CD-1	MGI:2656947

Genotype
MGI:2656947

hm1

• Allelic Composition: Atp2a1^tm1Dhm/Atp2a1^tm1Dhm
• Genetic Background: involves: CD-1

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

Atp2a1^tm1Dhm/Atp2a1^tm1Dhm newborns are cyanotic

mortality/aging

neonatal lethality, complete penetrance ( J:82947 )

• animals died within 30 minutes to 2 hours after birth

homeostasis/metabolism

cyanosis ( J:82947 )

• within minutes of birth, mutants exhibit progressive cyanosis

muscle

abnormal diaphragm morphology ( J:82947 )

• abnormal diaphragm muscle architecture, with prominent hypercontracted regions in scattered fibers and increased fiber size variability

• hypercontractility can decrease sarcomere length to as short as 600nm, forcing the thick and thin filaments into the Z-band region and leading to increased Z-band density

abnormal muscle physiology ( J:82947 )

• maximal calcium uptake activity is reduced by 80% in sarcoplasmic reticulum from diaphragm and hind limb skeletal muscle

impaired skeletal muscle contractility ( J:82947 )

• tetanic force is lower in diaphragm muscle of mutants than in wild-type

• the frequency-dependent maximal rate of contraction is significantly depressed

impaired muscle relaxation ( J:82947 )

• mutants show delayed relaxation of skeletal muscle

• time of relaxation is markedly longer in mutant diaphragm than in wild-type

• the frequency-dependent maximal rate of relaxation is significantly depressed

increased muscle fatigability ( J:82947 )

• mutants show an increased susceptibility to fatigue in diaphragm muscle in response to a stimulation protocol that measures fatigue

respiratory system

abnormal lung morphology ( J:82947 )

• congested and hypercellular lung

respiratory failure ( J:82947 )

• mutants exhibit gasping respiration within minutes after birth and die shortly thereafter of respiratory failure