Phenotypes associated with this allele

• Allele Symbol: Spns2^{tm1a(KOMP)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4460276
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Spns2^tm1a(KOMP)Wtsi/Spns2^tm1a(KOMP)Wtsi	B6JTyr;B6N-Spns2^tm1a(KOMP)Wtsi/Wtsi	MGI:5781762
hm2	Spns2^tm1a(KOMP)Wtsi/Spns2^tm1a(KOMP)Wtsi	involves: C57BL/6 * C57BL/6N	MGI:5791067

Genotype
MGI:5781762

hm1

• Allelic Composition: Spns2^{tm1a(KOMP)Wtsi}/Spns2^{tm1a(KOMP)Wtsi}
• Genetic Background: B6JTyr;B6N-Spns2^{tm1a(KOMP)Wtsi}/Wtsi
• Cell Lines: EPD0090_5_B04

Data Sources

IMPC Data for Spns2

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

behavior/neurological

abnormal behavior ( J:175295 )

IMPC - WTSI

absent pinna reflex ( J:165965 )

IMPC - WTSI

cardiovascular system

cornea vascularization ( J:165965 )

IMPC - WTSI

vision/eye

abnormal eye morphology ( J:165965 )

IMPC - WTSI

abnormal eye pigmentation ( J:165965 )

IMPC - WTSI

abnormal iris morphology ( J:165965 )

♂

IMPC - WTSI

abnormal cornea morphology ( J:165965 )

IMPC - WTSI

cornea vascularization ( J:165965 )

IMPC - WTSI

cornea opacity ( J:165965 )

IMPC - WTSI

abnormal eye size ( J:165965 )

IMPC - WTSI

abnormal eyelid aperture ( J:165965 )

IMPC - WTSI

excessive tearing ( J:165965 )

♀

IMPC - WTSI

skeleton

abnormal rib morphology ( J:165965 )

♀

IMPC - WTSI

decreased lumbar vertebrae number ( J:165965 )

♂

IMPC - WTSI

increased sacral vertebrae number ( J:165965 )

♂

IMPC - WTSI

increased bone mineral density ( J:165965 )

IMPC - WTSI

pigmentation

abnormal eye pigmentation ( J:165965 )

IMPC - WTSI

immune system

decreased leukocyte cell number ( J:165965 )

IMPC - WTSI

hematopoietic system

decreased leukocyte cell number ( J:165965 )

IMPC - WTSI

Genotype
MGI:5791067

hm2

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

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

cornea 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 )

cornea vascularization ( J:213427 )

abnormal cornea stroma morphology ( J:213427 )

cornea 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 )