Phenotypes associated with this allele

• Allele Symbol: Slc12a5^tm1Tjj
• Allele Name: targeted mutation 1, Thomas J Jentsch
• Allele ID: MGI:2181025
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc12a5^tm1Tjj/Slc12a5^tm1Tjj	either: 129X1/SvJ or (involves: 129X1/SvJ * C57BL/6) or (involves: 129X1/SvJ * NMRI)	MGI:3036536

Genotype
MGI:3036536

hm1

• Allelic Composition: Slc12a5^tm1Tjj/Slc12a5^tm1Tjj
• Genetic Background: either: 129X1/SvJ or (involves: 129X1/SvJ * C57BL/6) or (involves: 129X1/SvJ * NMRI)

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

mortality/aging

neonatal lethality, complete penetrance ( J:69625 )

• homozygous mice die within 15 minutes of birth

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:69625 )

trunk curl ( J:69625 )

• abnormal flexor and extensor posturing at E18.5

akinesia ( J:69625 )

• no spontaneous movement

abnormal touch/ nociception ( J:69625 )

• E18.5 embryos react only to strong mechanical stimuli

respiratory system

atelectasis ( J:69625 )

• lungs fail to expand completely

respiratory failure ( J:69625 )

• newborn mice failed to breathe

nervous system

abnormal central pattern generator function ( J:69625 )

• inspiratory motor output of brainstem lacked rhythmicity found in control animals

abnormal nervous system electrophysiology ( J:69625 )

abnormal action potential ( J:69625 )

• spontaneous motoneuron action potentials are frequent in the sciatic nerve

• 98% probability of on action potential spike being followed by another within 5 seconds

abnormal somatic nervous system physiology ( J:69625 )

• function of alpha motoneurons disrupted

• increased level of nerve depolarization

growth/size/body

abnormal abdominal wall morphology ( J:69625 )

• abdominal wall defects

• increased prominance

omphalocele ( J:69625 )

• intestinal protrusion at the umbilicus frequently seen