Phenotypes associated with this allele

• Allele Symbol: Slc35c1^tm1Cknr
• Allele Name: targeted mutation 1, Christian Korner
• Allele ID: MGI:3709989
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc35c1^tm1Cknr/Slc35c1^tm1Cknr	involves: 129P2/OlaHsd * 129/Sv	MGI:3711229
hm2	Slc35c1^tm1Cknr/Slc35c1^tm1Cknr	involves: 129P2/OlaHsd * C57BL/6	MGI:3711228
hm3	Slc35c1^tm1Cknr/Slc35c1^tm1Cknr	involves: 129/Sv * 129P2/OlaHsd * C57BL/6	MGI:3711227
cx4	Slc35c1^tm1Cknr/Slc35c1^tm1Cknr Slc35c2^tm1.1Pst/Slc35c2^tm1.1Pst	129X1.Cg-Slc35c1^tm1Cknr Slc35c2^tm1.1Pst	MGI:7720262
cx5	Slc35c1^tm1Cknr/Slc35c1^tm1Cknr Slc35c2^tm1.1Pst/Slc35c2^tm1.1Pst	B6.Cg-Slc35c1^tm1Cknr Slc35c2^tm1.1Pst	MGI:7720260

Genotype
MGI:3711229

hm1

• Allelic Composition: Slc35c1^tm1Cknr/Slc35c1^tm1Cknr
• Genetic Background: involves: 129P2/OlaHsd * 129/Sv

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:121151 )

• Background Sensitivity: recovery of homozygotes is less than on a mixed 129SV C57BL/6 background

Genotype
MGI:3711228

hm2

• Allelic Composition: Slc35c1^tm1Cknr/Slc35c1^tm1Cknr
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

perinatal lethality, incomplete penetrance ( J:121151 )

• Background Sensitivity: recovery of homozygotes is less than on a mixed 129SV C57BL/6 background

Genotype
MGI:3711227

hm3

• Allelic Composition: Slc35c1^tm1Cknr/Slc35c1^tm1Cknr
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

mortality/aging

lethality at weaning, incomplete penetrance ( J:121151 )

• second distinct increase in mortality during weaning

postnatal lethality, incomplete penetrance ( J:121151 )

• 1/3 of mice die during the first week of life with continuous decline afterwards

immune system

abnormal leukocyte adhesion ( J:121151 )

• binding to E- and P-selection is decreased compared to in control mice

impaired leukocyte tethering or rolling ( J:121151 )

• marked decrease in leukocyte rolling flux fraction compared with control mice and is completely dependent on alpha4-integrin

• rolling velocity is reduced to 32.2+/-1.2um/s compared to 28.3+/-1.1um/s in controls and is not affected by E- or P-selectin antibodies

increased leukocyte cell number ( J:121151 )

• 2.6-fold increase compared to wild-type

increased eosinophil cell number ( J:121151 )

• 3-fold increase compared to wild-type

increased neutrophil cell number ( J:121151 )

• 5-fold increase compared to wild-type

increased lymphocyte cell number ( J:121151 )

• 2.2-fold increase compared to wild-type

increased monocyte cell number ( J:121151 )

• 3.3-fold increase compared to wild-type

abnormal lymph node primary follicle morphology ( J:121151 )

• rudimentary or even absent

lymph node hypoplasia ( J:121151 )

• peripheral lymph nodes are hypocellular

respiratory system

decreased pulmonary alveolus wall thickness ( J:121151 )

• alveolar walls are thin

overexpanded pulmonary alveolus ( J:121151 )

• dilated alveoles

reproductive system

reduced female fertility ( J:121151 )

♀ • 50% of females are fertile

♀ • reduced fertility reflects aborted pregnancies, very small litters and failure to nurture pups

decreased litter size ( J:121151 )

• females have reduced litter size

reduced male fertility ( J:121151 )

♂ • 50% are fertile

behavior/neurological

abnormal posture ( J:121151 )

• bent

abnormal maternal nurturing ( J:121151 )

♀ • females fail to nurture pups

growth/size/body

decreased body weight ( J:121151 )

• postnatal retardation in weight gain

postnatal growth retardation ( J:121151 )

homeostasis/metabolism

abnormal metabolism ( J:121151 )

• vesicles from liver homogenates are unable to import fucose and mice are subsequently deficient in fucosylation

• however, supplementing mice or MEF cells with high levels of fucose restores fucose levels within the cells

hematopoietic system

abnormal leukocyte adhesion ( J:121151 )

• binding to E- and P-selection is decreased compared to in control mice

impaired leukocyte tethering or rolling ( J:121151 )

• marked decrease in leukocyte rolling flux fraction compared with control mice and is completely dependent on alpha4-integrin

• rolling velocity is reduced to 32.2+/-1.2um/s compared to 28.3+/-1.1um/s in controls and is not affected by E- or P-selectin antibodies

increased leukocyte cell number ( J:121151 )

• 2.6-fold increase compared to wild-type

increased eosinophil cell number ( J:121151 )

• 3-fold increase compared to wild-type

increased neutrophil cell number ( J:121151 )

• 5-fold increase compared to wild-type

increased lymphocyte cell number ( J:121151 )

• 2.2-fold increase compared to wild-type

increased monocyte cell number ( J:121151 )

• 3.3-fold increase compared to wild-type

integument

ruffled hair ( J:121151 )

cellular

abnormal leukocyte adhesion ( J:121151 )

• binding to E- and P-selection is decreased compared to in control mice

impaired leukocyte tethering or rolling ( J:121151 )

• marked decrease in leukocyte rolling flux fraction compared with control mice and is completely dependent on alpha4-integrin

• rolling velocity is reduced to 32.2+/-1.2um/s compared to 28.3+/-1.1um/s in controls and is not affected by E- or P-selectin antibodies

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital disorder of glycosylation type IIc		DOID:0070255	OMIM:266265	J:121151

Genotype
MGI:7720262

cx4

• Allelic Composition: Slc35c1^tm1Cknr/Slc35c1^tm1Cknr; Slc35c2^tm1.1Pst/Slc35c2^tm1.1Pst
• Genetic Background: 129X1.Cg-Slc35c1^tm1Cknr Slc35c2^tm1.1Pst

mortality/aging

preweaning lethality, complete penetrance ( J:354047 )

• early death

embryo

embryonic growth retardation ( J:354047 )

• severe

skeleton

abnormal skeleton morphology ( J:354047 )

• Background Sensitivity: skeletal phenotype in lumbar vertebrae and ribs are less severe than in double mutants on a C57BL/6J background

growth/size/body

embryonic growth retardation ( J:354047 )

• severe

Genotype
MGI:7720260

cx5

• Allelic Composition: Slc35c1^tm1Cknr/Slc35c1^tm1Cknr; Slc35c2^tm1.1Pst/Slc35c2^tm1.1Pst
• Genetic Background: B6.Cg-Slc35c1^tm1Cknr Slc35c2^tm1.1Pst

mortality/aging

preweaning lethality, complete penetrance ( J:354047 )

• early death

embryo

embryonic growth retardation ( J:354047 )

• severe

skeleton

abnormal skeleton morphology ( J:354047 )

• skeletal defect are not more severe than in mutant mice wild-type for Slc35c2

• Background Sensitivity: skeletal phenotype in lumbar vertebrae and ribs are more severe than in double mutants on a 129X1/SvJ background

abnormal sternum morphology ( J:354047 )

• deformed at E18.5

decreased rib number ( J:354047 )

• deformed or missing ribs at E18.5

decreased thoracic vertebrae number ( J:354047 )

• deformed or missing thoracic vertebrae at E18.5

decreased lumbar vertebrae number ( J:354047 )

• deformed or missing lumbar vertebrae at E18.5

growth/size/body

embryonic growth retardation ( J:354047 )

• severe