Phenotypes associated with this allele

• Allele Symbol: Slc5a7^tm1Rbl
• Allele Name: targeted mutation 1, Randy D Blakely
• Allele ID: MGI:3045463
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc5a7^tm1Rbl/Slc5a7^tm1Rbl	involves: 129S6/SvEvTac * C57BL/6	MGI:3045585
ht2	Slc5a7^tm1Rbl/Slc5a7^+	involves: 129S6/SvEvTac * C57BL/6	MGI:3045590

Genotype
MGI:3045585

hm1

• Allelic Composition: Slc5a7^tm1Rbl/Slc5a7^tm1Rbl
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:90846 )

• most homozygous pups die within an hour of birth as a result of hypoxia

• increased maternal dietary choline or treatment of newborns with acetylcholine degradation inhibitors does not improve survival

behavior/neurological

hyporesponsive to tactile stimuli ( J:90846 )

• mutants respond with only a limited contraction when touched

homeostasis/metabolism

cyanosis ( J:90846 )

• homozygous mutants become visibly cyanotic after birth

respiratory system

respiratory failure ( J:90846 )

• newborn mutants have fewer aerated alveoli and the lungs sink rather than float in water

nervous system

abnormal motor neuron innervation pattern ( J:90846 )

• motor axons at the diaphragm frequently extend processes beyond areas occupied by nicotinic acetylcholine receptors

abnormal neuromuscular synapse morphology ( J:90846 )

• an abnormally broad band of nicotinic acetylcholine receptors is seen along intramuscular nerve trunks innervating the diaphragm

abnormal synaptic acetylcholine release ( J:90846 )

• neuromuscular junctions cannot sustain acetylcholine release

Genotype
MGI:3045590

ht2

• Allelic Composition: Slc5a7^tm1Rbl/Slc5a7⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:90846 )

• heterozygotes are more sensitive to hemicholinium (inhibits choline uptake) toxicity, with 60% of heterozygotes dying at a concentration that is not lethal to wild-type mice

homeostasis/metabolism

increased susceptibility to xenobiotic induced morbidity/mortality ( J:90846 )

• heterozygotes are more sensitive to hemicholinium (inhibits choline uptake) toxicity, with 60% of heterozygotes dying at a concentration that is not lethal to wild-type mice