Phenotypes associated with this allele

• Allele Symbol: Slc12a6^tm1Dlp
• Allele Name: targeted mutation 1, Eric Delpire
• Allele ID: MGI:2429639
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc12a6^tm1Dlp/Slc12a6^tm1Dlp	involves: 129 * C57BL/6J	MGI:2451348
ht2	Slc12a6^tm1Dlp/Slc12a6^+	involves: 129 * C57BL/6J	MGI:3841119

Genotype
MGI:2451348

hm1

• Allelic Composition: Slc12a6^tm1Dlp/Slc12a6^tm1Dlp
• Genetic Background: involves: 129 * C57BL/6J

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

behavior/neurological

decreased exploration in new environment ( J:79870 )

• homozygotes exhibit significantly reduced exploratory activity in open field chambers relative to wild-type and heterozygous mice, as measured by the total distance traveled and number of instances of rearing at the periphery within the first 5 min

• however, no differences are observed in the time spent at the periphery, suggesting absence of anxiety

limb grasping ( J:79870 )

• when suspended from the tail, young homozygotes cross their hindlimbs instead of extending them

impaired coordination ( J:79870 )

• young homozygotes perform poorly on the rotorod test, a wire-hanging test, and a beam-task test relative to age-matched wild-type littermates, with no obvious decline in performance between 1 and 4 months of age

impaired limb coordination ( J:79870 )

• starting at 2 weeks of age, homozygotes exhibit disorganized limb movements

• in an open field chamber, homozygotes drag their hindlimbs and slip leaving wide tracks in the bedding, whereas wild-type mice move freely without disrupting the corncob substrate

abnormal limb posture ( J:79870 )

• starting at 2 weeks of age, homozygotes show a low posture on a flat surface, due to weakness of the hindlimbs and abnormal limb movements

paraparesis ( J:79870 )

• starting at 2 weeks of age, homozygotes display weakness of the hindlimbs

nervous system

nervous system phenotype ( J:79870 )

N • homozygotes display normal brain (corpus callosum) and spinal cord morphology

abnormal axon morphology ( J:79870 )

• homozygotes exhibit axonal swelling in the sciatic nerve

abnormal myelin sheath morphology ( J:79870 )

• homozygotes exhibit axons with a thinner myelin layer in the sciatic nerve

abnormal sciatic nerve morphology ( J:79870 )

• unlike wild-type and heterozygous mice, homozygotes display many thinly myelinated axons and signs of myelin deposits in the sciatic nerve

axon degeneration ( J:79870 )

• homozygotes display peripheral nerve fiber degeneration, as demonstrated in sections of the sciatic nerve

abnormal myelination ( J:79870 )

• homozygotes display hypomyelination, decompaction of myelin, and demyelination in the sciatic nerve

demyelination ( J:79870 )

decreased prepulse inhibition ( J:79870 )

• homozygotes display a significant reduction in PPI of the startle response at different prepulse intensities relative to wild-type and heterozygous littermates, indicating a sensorimotor gating deficit

• however, no differences are observed in acoustic startle responses at different intensities, suggesting that hearing is normal

reproductive system

infertility ( J:79870 )

• attempts to mate homozygous mutant males and females have been unsuccessful

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
agenesis of the corpus callosum with peripheral neuropathy		DOID:0090003	OMIM:218000	J:79870

Genotype
MGI:3841119

ht2

• Allelic Composition: Slc12a6^tm1Dlp/Slc12a6⁺
• Genetic Background: involves: 129 * C57BL/6J

behavior/neurological

decreased exploration in new environment ( J:79870 )

• heterozygotes exhibit reduced exploratory activity in open field chambers relative to wild-type littermates, as measured by the total distance traveled and number of instances of rearing at the periphery within the first 5 min

• however, no differences are observed in the time spent at the periphery, suggesting absence of anxiety

nervous system

nervous system phenotype ( J:79870 )

N • heterozygotes show normal peripheral nerve morphology, with no signs of myelination defects, axonal swelling, or fiber degeneration in the sciatic nerve

decreased prepulse inhibition ( J:79870 )

• heterozygotes exhibit an intermediate phenotype with a PPI level lower than that of wild-type littermates

• however, no differences are observed in acoustic startle responses at different intensities, suggesting that hearing is normal