Phenotypes associated with this allele

• Allele Symbol: Slc17a6^tm1.1Kldr
• Allele Name: targeted mutation 1.1, Klas Kullander
• Allele ID: MGI:3693866
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc17a6^tm1.1Kldr/Slc17a6^tm1.1Kldr	involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6	MGI:3694901

Genotype
MGI:3694901

hm1

• Allelic Composition: Slc17a6^tm1.1Kldr/Slc17a6^tm1.1Kldr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:116180 )

• die at or immediately after birth

respiratory system

respiratory failure ( J:116180 )

• fail to begin breathing

nervous system

enlarged third ventricle ( J:116180 )

• in 4 of 9 mice at E18.5 and P0 the third ventricle appears enlarged, similar to that in wild-type mice at E16.5

• however, no other gross defects in brain morphology are detected

abnormal synaptic vesicle morphology ( J:116180 )

• synaptic vesicles in asymmetric synapses in the pons, cortex, medulla, and hippocampus have an elongated, drop-like or irregular shape

abnormal synaptic vesicle number ( J:116180 )

• more asymmetric synapses containing only a single vesicles are seen and the average number of vesicles is significantly reduced

abnormal nervous system physiology ( J:116180 )

abnormal pre-Botzinger complex physiology ( J:116180 )

• absence of spontaneous electrical activity in the hypoglossal root nerve and accompanying changes in fluorescence in the facial motor nuclei indicating a loss of respiratory-related rhythmic motor output

• absence of spontaneous rhythmic activity in the pre-Botzinger complex at E16.5

• unilateral electrical and chemical stimulation of the pre-Botzinger complex fails to induce bilateral bursts and instead produces only ispilateral responses in the vicinity of stimulation

• absence of fast synaptic events in the pre-Botzinger complex area suggesting a lack of AMPA/kainate receptor-mediated synaptic processing

absence of AMPA-mediated synaptic currents ( J:116180 )

• absence of fast synaptic events in the pre-Botzinger complex area suggesting a lack of AMPA/kainate receptor-mediated synaptic processing

behavior/neurological

abnormal reflex ( J:116180 )

• absent toe-pinch reflex at E18.5

hunched posture ( J:116180 )

• at E18.5

growth/size/body

decreased birth body size ( J:116180 )

• significantly smaller than control littermates at E18.5

decreased fetal weight ( J:116180 )

• weigh about 8% less than littermate controls at E18.5

homeostasis/metabolism

cyanosis ( J:116180 )

• visible shortly after birth