Phenotypes Associated with This Genotype

Genotype
MGI:8247878

• Allelic Composition: Mymx^em3Eno/Mymx^em3Eno
• Genetic Background: involves: C57BL/6N

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

mortality/aging

postnatal lethality, complete penetrance ( J:372295 )

• no mice survive beyond 14 days of age

neonatal lethality, incomplete penetrance ( J:372295 )

• 40% of mice die shortly after birth and none survive beyond 14 days of age

behavior/neurological

absent gastric milk in neonates ( J:372295 )

• pups lack a milk spot in their stomach, indicative of failure to feed

growth/size/body

postnatal growth retardation ( J:372295 )

• surviving mice show postnatal growth defects, with reduced body weight at P5

homeostasis/metabolism

hypoxia ( J:372295 )

• mice that die at birth are clearly hypoxic and fail to inflate their lungs

muscle

abnormal myoblast fusion ( J:372295 )

• tongue and hind-limb muscles show severely impaired muscle fiber formation and fewer nuclei per myofiber in mice that die at birth suggesting a hypomorphic fusion phenotype

abnormal muscle fiber morphology ( J:372295 )

• tongue and hind-limb muscles show severely impaired muscle fiber formation

abnormal sarcomere morphology ( J:372295 )

• hindlimb muscles show sparse and highly fragmented sarcomeres

skeletal muscle fiber degeneration ( J:372295 )

• hindlimb muscles show evidence of myofiber degeneration

decreased skeletal muscle size ( J:372295 )

• hindlimb muscles show a reduction in muscle size across muscle groups

respiratory system

respiratory failure ( J:372295 )

• mice that die at birth are clearly hypoxic and fail to inflate their lungs

cellular

abnormal myoblast fusion ( J:372295 )

• tongue and hind-limb muscles show severely impaired muscle fiber formation and fewer nuclei per myofiber in mice that die at birth suggesting a hypomorphic fusion phenotype

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Carey-Fineman-Ziter syndrome 2		DOID:0061116	OMIM:619941	J:372295