Phenotypes associated with this allele

• Allele Symbol: Mymx^em1Shcs
• Allele Name: endonuclease-mediated mutation 1, Srihari C Sampath
• Allele ID: MGI:5903202
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mymx^em1Shcs/Mymx^em1Shcs	involves: C57BL/6J	MGI:5903213

Genotype
MGI:5903213

hm1

• Allelic Composition: Mymx^em1Shcs/Mymx^em1Shcs
• Genetic Background: involves: C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:241564 )

• despite live mice observed prenatally, no viable neonatal or adult animals are observed

• mice delivered by Caesarian at E18.5 die soon after delivery

muscle

abnormal muscle morphology ( J:241564 )

• decreased total size of muscle groups at E17.5

abnormal myoblast fusion ( J:241564 )

• defective myoblast fusion

abnormal skeletal muscle morphology ( J:241564 )

• at E18.5 to E19.5 with reduced fused fibers with accumulation of short nascent fibers and unfused mononucleated cells in tongue, forelimb, facial, jaw, diaphragm and intercostal muscles musculature

abnormal limb muscle morphology ( J:241564 )

• reduced limb muscles at E17.5

abnormal intercostal muscle morphology ( J:241564 )

• reduced at E17.5

muscle weakness ( J:241564 )

• atonia in Caesarian delivered E18.5 pups

growth/size/body

nuchal edema ( J:241564 )

• at E16

decreased fetal weight ( J:241564 )

• in Caesarian delivered E18.5 pups

respiratory system

primary atelectasis ( J:241564 )

skeleton

abnormal spine curvature ( J:241564 )

• in Caesarian delivered E18.5 pups

limbs/digits/tail

abnormal limb morphology ( J:241564 )

• reduced limb diameter

abnormal limb muscle morphology ( J:241564 )

• reduced limb muscles at E17.5

cellular

abnormal myoblast fusion ( J:241564 )

• defective myoblast fusion

homeostasis/metabolism

nuchal edema ( J:241564 )

• at E16

cyanosis ( J:241564 )

• in Caesarian delivered E18.5 pups

integument

nuchal edema ( J:241564 )

• at E16