Phenotypes associated with this allele

• Allele Symbol: Kel^tm1Slee
• Allele Name: targeted mutation 1, Soohee Lee
• Allele ID: MGI:5581644
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kel^tm1Slee/Kel^tm1Slee	B6.129X1-Kel^tm1Slee	MGI:5581656
cx2	Kel^tm1Slee/Kel^tm1Slee Xk^tm1Ariv/Y	B6.Cg-Kel^tm1Slee Xk^tm1Ariv	MGI:5581674
cx3	Kel^tm1Slee/Kel^tm1Slee Xk^tm1Ariv/Xk^tm1Ariv	B6.Cg-Kel^tm1Slee Xk^tm1Ariv	MGI:5581719

Genotype
MGI:5581656

hm1

• Allelic Composition: Kel^tm1Slee/Kel^tm1Slee
• Genetic Background: B6.129X1-Kel^tm1Slee

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

cardiovascular system

decreased heart rate ( J:212529 )

• although systolic pressure is normal, pulse is significantly slower

abnormal heart electrocardiography waveform feature ( J:212529 )

shortened PR interval ( J:212529 )

shortened PQ interval ( J:212529 )

hematopoietic system

decreased erythrocyte magnesium level ( J:212528 )

♂

decreased erythrocyte potassium level ( J:212528 )

♂ • significantly reduced

abnormal cellular hemoglobin content ( J:212529 )

• small but significant increase

increased hemoglobin concentration distribution width ( J:212528 , J:212529 )

• small but significant increase (J:212529)

♂ (J:212528)

increased mean corpuscular hemoglobin ( J:212529 )

• small but significant increase

decreased mean corpuscular hemoglobin concentration ( J:212528 )

♂ • slightly decreased

increased mean corpuscular hemoglobin concentration ( J:212529 )

• small but significant increase

increased mean corpuscular volume ( J:212528 , J:212529 )

• small but significant increase (J:212529)

♂ (J:212528)

reticulocytosis ( J:212528 )

♂ • 2.17 to 3.15% increase in reticulocyte cell number

behavior/neurological

abnormal motor coordination/balance ( J:212529 )

• increased hind limb splaying when dropped (at 6, 12, and 16 months)

impaired coordination ( J:212529 )

• mild decline in rotarod performance

weakness ( J:212529 )

• decreased forelimb strength from 12-16 months of age

abnormal gait ( J:212529 )

• mild increase in abnormalities

nervous system

abnormal axon morphology ( J:206464 )

• giant axons found in sciatic nerve and anterior column of spinal cord

• number of giant axons increases in older mice

• giant axons filled with irregularly bundled neurofilaments

• clusters of microtubules, dense lamellar bodies, and membranous structures

abnormal internode morphology ( J:206464 , J:212529 )

• myelin sheaths irregular over internodes of giant axons with extended gaps (J:206464)

decreased myelin sheath thickness ( J:206464 )

• myelin sheaths of giant axons thinner than expected

increased myelin sheath thickness ( J:206464 , J:212529 )

• some small nerve fibers with thicker myelin sheaths than expected (J:206464)

homeostasis/metabolism

decreased erythrocyte magnesium level ( J:212528 )

♂

decreased erythrocyte potassium level ( J:212528 )

♂ • significantly reduced

Genotype
MGI:5581674

cx2

• Allelic Composition: Kel^tm1Slee/Kel^tm1Slee; Xk^tm1Ariv/Y
• Genetic Background: B6.Cg-Kel^tm1Slee Xk^tm1Ariv

hematopoietic system

abnormal erythrocyte ion content ( J:212528 )

♂ • 3.2-fold increase in Ca2+ ion content

increased erythrocyte sodium level ( J:212528 )

♂ • small but significant increase

decreased mean corpuscular hemoglobin concentration ( J:212528 )

♂ • slightly decreased

increased mean corpuscular volume ( J:212528 )

♂ • significantly increased

abnormal reticulocyte cell number ( J:212528 )

♂ • modest increase in reticulocyte level (2.71 to 3.6 %)

homeostasis/metabolism

increased erythrocyte sodium level ( J:212528 )

♂ • small but significant increase

Genotype
MGI:5581719

cx3

• Allelic Composition: Kel^tm1Slee/Kel^tm1Slee; Xk^tm1Ariv/Xk^tm1Ariv
• Genetic Background: B6.Cg-Kel^tm1Slee Xk^tm1Ariv

nervous system

abnormal axon morphology ( J:206464 )

♀ • giant axons found in sciatic nerve and anterior column of spinal cord

♀ • number of giant axons increases in older mice

♀ • giant axons filled with irregularly bundled neurofilaments

♀ • clusters of microtubules, dense lamellar bodies, and membranous structures

abnormal internode morphology ( J:206464 )

♀ • myelin sheaths irregular over internodes of giant axons with extended gaps

decreased myelin sheath thickness ( J:206464 )

♀ • myelin sheaths of giant axons thinner than expected

increased myelin sheath thickness ( J:206464 )

♀ • some small nerve fibers with thicker myelin sheaths than expected

muscle

muscle phenotype ( J:206464 )

♀N • no obvious pathology in younger mice

abnormal skeletal muscle fiber morphology ( J:206464 )

♀ • occasional muscle fiber splitting

♀ • occasional angulated atrophic fibers

♀ • occasional diffusely basophilic sarcoplasm

increased variability of skeletal muscle fiber size ( J:206464 )

♀ • variation in muscle fiber size in older mice

centrally nucleated skeletal muscle fibers ( J:206464 )

♀ • frequent internalized nuclei