Phenotypes associated with this allele

• Allele Symbol: Slc5a3^tm1Skc
• Allele Name: targeted mutation 1, Sookja K Chung
• Allele ID: MGI:3609547
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc5a3^tm1Skc/Slc5a3^tm1Skc	involves: 129S7/SvEvBrd	MGI:3686853

Genotype
MGI:3686853

hm1

• Allelic Composition: Slc5a3^tm1Skc/Slc5a3^tm1Skc
• Genetic Background: involves: 129S7/SvEvBrd

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:102665 )

• about 80% die shortly after birth and about 20% survive to adulthood

• neonatal lethality can be prevented by prenatal maternal myo-inositol supplement

respiratory system

atelectasis ( J:102665 )

• air sacs of all but one are closed/collapsed in neonates and at E18.5, however the structure of the lungs appears well developed

respiratory failure ( J:102665 )

• die of respiratory failure soon after birth

nervous system

abnormal nervous system morphology ( J:102665 )

• other peripheral nerves, including the branchial plexus and intercostal nerves, are underdeveloped at E18

abnormal facial nerve morphology ( J:102665 )

• underdeveloped at E18.5

abnormal vagus nerve morphology ( J:102665 )

• underdeveloped at E18.5

abnormal phrenic nerve morphology ( J:102665 )

• reduced number and size of the phrenic nerve is evident at E13.5

• in 12 of 47, only the left side phrenic nerve is present, in 1 of 47, only the right side phrenic nerve is present and in 6 of 47, both nerves are present at E18.5

• when present, the phrenic nerve shows fewer branches

absent phrenic nerve ( J:102665 )

• phrenic nerve is absent in 27 of 47 homozygotes at E18.5

abnormal nerve conduction ( J:102665 )

• nerve conduction velocity of the sciatic nerve at 10 weeks of age is dramatically reduced, although exhibit normal gait

homeostasis/metabolism

cyanosis ( J:102665 )

• skin turns cyanotic soon after birth

growth/size/body

decreased body size ( J:102665 )

• fetuses are slightly smaller than E18.5 wild-type fetuses