Phenotypes Associated with This Genotype

Genotype
MGI:5791067

• Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6 * C57BL/6N
• Cell Lines: EPD0090_5_B04

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

hematopoietic system

increased granulocyte number ( J:213427 )

increased NK cell number ( J:213427 )

increased CD4-positive, alpha-beta T cell number ( J:188933 )

• moderate in the thymus

increased CD8-positive, alpha-beta T cell number ( J:188933 )

• moderate in the thymus

increased NK T cell number ( J:213427 )

increased monocyte cell number ( J:213427 )

decreased leukocyte cell number ( J:188933 , J:213427 )

decreased B cell number ( J:188933 , J:213427 )

• circulating (J:188933)

decreased mature B cell number ( J:213427 )

decreased B-1 B cell number ( J:188933 )

• in the peritoneal cavity

decreased follicular B cell number ( J:188933 )

decreased T cell number ( J:213427 )

decreased CD4-positive, alpha-beta T cell number ( J:188933 , J:213427 )

• 4-fold in the spleen (J:188933)

decreased CD8-positive, alpha-beta T cell number ( J:188933 , J:213427 )

• 4-fold in the spleen (J:188933)

decreased IgG level ( J:188933 )

• in response to immune challenge

decreased IgG1 level ( J:188933 )

• in response to immune challenge

behavior/neurological

absent pinna reflex ( J:213427 )

immune system

immune system phenotype ( J:188933 )

N • mice exhibit normal early B cell development

N • macrophage exhibit normal responses to inflammatory stimuli

increased granulocyte number ( J:213427 )

increased NK cell number ( J:213427 )

increased CD4-positive, alpha-beta T cell number ( J:188933 )

• moderate in the thymus

increased CD8-positive, alpha-beta T cell number ( J:188933 )

• moderate in the thymus

increased NK T cell number ( J:213427 )

increased monocyte cell number ( J:213427 )

decreased leukocyte cell number ( J:188933 , J:213427 )

decreased B cell number ( J:188933 , J:213427 )

• circulating (J:188933)

decreased mature B cell number ( J:213427 )

decreased B-1 B cell number ( J:188933 )

• in the peritoneal cavity

decreased follicular B cell number ( J:188933 )

decreased T cell number ( J:213427 )

decreased CD4-positive, alpha-beta T cell number ( J:188933 , J:213427 )

• 4-fold in the spleen (J:188933)

decreased CD8-positive, alpha-beta T cell number ( J:188933 , J:213427 )

• 4-fold in the spleen (J:188933)

abnormal humoral immune response ( J:188933 )

decreased IgG level ( J:188933 )

• in response to immune challenge

decreased IgG1 level ( J:188933 )

• in response to immune challenge

increased incidence of corneal inflammation ( J:213427 )

• keratitis

increased susceptibility to bacterial infection ( J:213427 )

cardiovascular system

corneal vascularization ( J:213427 )

pigmentation

abnormal eye pigmentation ( J:188933 , J:213427 )

hearing/vestibular/ear

abnormal auditory brainstem response ( J:213427 )

homeostasis/metabolism

increased circulating bilirubin level ( J:213427 )

decreased circulating glucose level ( J:213427 )

vision/eye

increased incidence of corneal inflammation ( J:213427 )

• keratitis

abnormal eye pigmentation ( J:188933 , J:213427 )

abnormal iridocorneal angle ( J:213427 )

abnormal ciliary body morphology ( J:213427 )

abnormal iris morphology ( J:213427 )

abnormal pupil morphology ( J:213427 )

abnormal cornea morphology ( J:213427 )

corneal vascularization ( J:213427 )

abnormal corneal stroma morphology ( J:213427 )

corneal opacity ( J:213427 )

cataract ( J:213427 )

small lens ( J:213427 )

microphthalmia ( J:213427 )

narrow eye opening ( J:213427 )

eyelids fail to open ( J:213427 )

abnormal retina morphology ( J:213427 )

• retinal dysplasia

eye opacity ( J:188933 , J:213427 )

skeleton

increased bone mineral content ( J:213427 )

increased bone strength ( J:213427 )