Phenotypes associated with this allele

• Allele Symbol: Slc12a6^tm1Garo
• Allele Name: targeted mutation 1, Guy A Rouleau
• Allele ID: MGI:5318538
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc12a6^tm1Garo/Slc12a6^tm1Garo	B6.129-Slc12a6^tm1Garo	MGI:5318540
cn2	Slc12a6^tm1Garo/Slc12a6^tm1Garo Tg(Syn1-cre)671Jxm/0	involves: 129 * C57BL/6 * CBA	MGI:5318542

Genotype
MGI:5318540

hm1

• Allelic Composition: Slc12a6^tm1Garo/Slc12a6^tm1Garo
• Genetic Background: B6.129-Slc12a6^tm1Garo

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

normal phenotype

no abnormal phenotype detected ( J:183239 )

• viable and fertile with no signs of neuropathy or motor weakness

Genotype
MGI:5318542

cn2

• Allelic Composition: Slc12a6^tm1Garo/Slc12a6^tm1Garo; Tg(Syn1-cre)671Jxm/0
• Genetic Background: involves: 129 * C57BL/6 * CBA

reproductive system

infertility ( J:183239 )

• unable to successfully breed

nervous system

abnormal nervous system morphology ( J:183239 )

• progressive peripheral neuropathy starting at 3-4 weeks of age

increased brain weight ( J:183239 )

• at 2 months of age

decreased corpus callosum size ( J:183239 )

• hypoplastic with a small but significant decrease in length

abnormal axon morphology ( J:183239 )

• axon swelling in sciatic nerves

abnormal sciatic nerve morphology ( J:183239 )

• axon degeneration, hypomyelination and axon swelling in sciatic nerves

axon degeneration ( J:183239 )

• in sciatic nerves

demyelination ( J:183239 )

• hypomyelination in sciatic nerves

behavior/neurological

limb grasping ( J:183239 )

• by 3-4 weeks of age

impaired coordination ( J:183239 )

abnormal locomotor behavior ( J:183239 )

• severe locomotor deficiencies

• deficiencies become more severe after 8 months of age

increased locomotor activity ( J:183239 )

• significant increase in the total distance traveled and the number of movement bouts at 5 months of age

decreased chemical nociceptive threshold ( J:183239 )

• significantly less sensitive in a formalin test of spontaneous chemical/inflammatory pain

growth/size/body

decreased body weight ( J:183239 )

• at 2 months of age

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:183239