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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc12a5tm1Tjj
targeted mutation 1, Thomas J Jentsch
MGI:2181025
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slc12a5tm1Tjj/Slc12a5tm1Tjj either: 129X1/SvJ or (involves: 129X1/SvJ * C57BL/6) or (involves: 129X1/SvJ * NMRI) MGI:3036536


Genotype
MGI:3036536
hm1
Allelic
Composition
Slc12a5tm1Tjj/Slc12a5tm1Tjj
Genetic
Background
either: 129X1/SvJ or (involves: 129X1/SvJ * C57BL/6) or (involves: 129X1/SvJ * NMRI)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a5tm1Tjj mutation (0 available); any Slc12a5 mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygous mice die within 15 minutes of birth

behavior/neurological
• abnormal flexor and extensor posturing at E18.5
• no spontaneous movement
• E18.5 embryos react only to strong mechanical stimuli

respiratory system
• lungs fail to expand completely
• newborn mice failed to breathe

nervous system
• inspiratory motor output of brainstem lacked rhythmicity found in control animals
• spontaneous motoneuron action potentials are frequent in the sciatic nerve
• 98% probability of on action potential spike being followed by another within 5 seconds
• function of alpha motoneurons disrupted
• increased level of nerve depolarization

growth/size/body
• abdominal wall defects
• increased prominance
• intestinal protrusion at the umbilicus frequently seen





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory