Phenotypes associated with this allele

• Allele Symbol: Slc4a10^tm1.1Cahb
• Allele Name: targeted mutation 1.1, Christian Hubner
• Allele ID: MGI:3774019
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc4a10^tm1.1Cahb/Slc4a10^tm1.1Cahb	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3798854

Genotype
MGI:3798854

hm1

• Allelic Composition: Slc4a10^tm1.1Cahb/Slc4a10^tm1.1Cahb
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:131058 )

• about 80% die before 60 days of age on a regular diet

• however, when fed a soft food diet from the second week of life, most pups catch up to the weight of wild-type and survive; these mutants have a normal weight and lifespan

growth/size/body

slow postnatal weight gain ( J:131058 )

• mutants do not gain body weight at the same rate as wild-type, even if fed soft-food diet, but eventually reach a normal body weight

behavior/neurological

decreased susceptibility to pharmacologically induced seizures ( J:131058 )

• the latency until onset of myoclonic jerks after application of pentylenetetrazole (PTZ) is almost doubled compared with wild-type and epileptic activity does not progress to generalized seizures

• at higher doses of PTZ or pilocarpine treatment, all mutants recover from epileptic activity unlike wild-type where half die

• onset of hyperthermia-induced generalized epileptic activity in 10 day old pups is delayed compared to wild-type

abnormal response to new environment ( J:131058 )

• the habituation of exploratory locomotion within new surroundings is delayed

decreased anxiety-related response ( J:131058 )

• in the light-dark test, mutants spend slightly more time in the bright area compared with wild-type

abnormal response to novel object ( J:131058 )

• exploratory activity in response to a new object (falcon tube) is delayed

homeostasis/metabolism

abnormal pH regulation ( J:131058 )

• Na+ dependent acid extrusion is severely diminished in choroid plexus epithelial cells; clusters of isolated choroid plexus epithelial cells acid-loaded by an ammonium pulse, then washed-out using saline devoid of Na+, show a diminished Na+-dependent recovery of pHi in the presence of bicarbonate when Na+ was reapplied at the time of peak acidification compared to wild-type

• neuronal pHi regulation is compromised; the rate of pHi recovery in hippocampal CA3 pyramidal cells during the propionate exposure is significantly slower than in wild-type and the alkaline overshoot upon propionate washout is less pronounced

nervous system

decreased susceptibility to pharmacologically induced seizures ( J:131058 )

• the latency until onset of myoclonic jerks after application of pentylenetetrazole (PTZ) is almost doubled compared with wild-type and epileptic activity does not progress to generalized seizures

• at higher doses of PTZ or pilocarpine treatment, all mutants recover from epileptic activity unlike wild-type where half die

• onset of hyperthermia-induced generalized epileptic activity in 10 day old pups is delayed compared to wild-type

abnormal brain ventricle morphology ( J:131058 )

• reduction in brain ventricle volume

abnormal choroid plexus morphology ( J:131058 )

• the choroid plexus epithelium shows enlarged lateral intercellular spaces and a reduction of apical microvilli

abnormal neuron physiology ( J:131058 )

• in the CA3 area, propionate-induced intracellular acidification and attenuation of 4-aminopyridine-induced network activity are prolonged in mutants, indicating defects in neuronal excitability