Phenotypes Associated with This Genotype

Genotype
MGI:3711227

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

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

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

abnormal pulmonary alveolus wall morphology ( 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