Phenotypes associated with this allele

• Allele Symbol: Camsap3^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4431915
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Camsap3^tm1a(EUCOMM)Wtsi/Camsap3^tm1a(EUCOMM)Wtsi	C57BL/6N-Camsap3^tm1a(EUCOMM)Wtsi/Wtsi	MGI:5767584
hm2	Camsap3^tm1a(EUCOMM)Wtsi/Camsap3^tm1a(EUCOMM)Wtsi	involves: C57BL/6N	MGI:6721055
ht3	Camsap3^tm1a(EUCOMM)Wtsi/Camsap3^+	C57BL/6N-Camsap3^tm1a(EUCOMM)Wtsi/Wtsi	MGI:6262028

Genotype
MGI:5767584

hm1

• Allelic Composition: Camsap3^{tm1a(EUCOMM)Wtsi}/Camsap3^{tm1a(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Camsap3^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0453_4_A04

Data Sources

IMPC Data for Camsap3

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

adipose tissue

increased total body fat amount ( J:211773 )

IMPC - WTSI

behavior/neurological

absent pinna reflex ( J:211773 )

IMPC - WTSI

trunk curl ( J:211773 )

IMPC - WTSI

cardiovascular system

abnormal ductus venosus valve morphology ( J:239583 )

DMDD

abnormal inferior vena cava morphology ( J:239583 )

DMDD

bicuspid aortic valve ( J:239583 )

DMDD

embryo

abnormal placenta morphology ( J:261316 )

• branching morphology defect at E9.5

growth/size/body

decreased lean body mass ( J:211773 )

IMPC - WTSI

decreased body length ( J:211773 )

♀

IMPC - WTSI

hearing/vestibular/ear

abnormal auditory brainstem response ( J:211773 )

IMPC - WTSI

hematopoietic system

increased leukocyte cell number ( J:211773 )

♀

IMPC - WTSI

increased neutrophil cell number ( J:211773 )

♀

IMPC - WTSI

increased gamma-delta T cell number ( J:211773 )

♀

IMPC - WTSI

homeostasis/metabolism

decreased blood urea nitrogen level ( J:211773 )

♀

IMPC - WTSI

decreased circulating glucose level ( J:211773 )

♂

IMPC - WTSI

increased circulating thyroxine level ( J:211773 )

IMPC - WTSI

decreased circulating cholesterol level ( J:211773 )

IMPC - WTSI

decreased circulating HDL cholesterol level ( J:211773 )

♂

IMPC - WTSI

increased circulating glycerol level ( J:211773 )

♂

IMPC - WTSI

increased circulating sodium level ( J:211773 )

♂

IMPC - WTSI

increased circulating alkaline phosphatase level ( J:211773 )

IMPC - WTSI

increased circulating chloride level ( J:211773 )

♂

IMPC - WTSI

immune system

increased leukocyte cell number ( J:211773 )

♀

IMPC - WTSI

increased neutrophil cell number ( J:211773 )

♀

IMPC - WTSI

increased gamma-delta T cell number ( J:211773 )

♀

IMPC - WTSI

liver/biliary system

abnormal liver parenchyma morphology ( J:239583 )

DMDD

mortality/aging

preweaning lethality, incomplete penetrance ( J:211773 , J:261316 )

IMPC - WTSI (J:211773)

MGI

• fewer than the expected numbers of mice are seen at P14 (J:261316)

nervous system

abnormal forebrain morphology ( J:239583 )

DMDD

abnormal dorsal root ganglion morphology ( J:239583 )

DMDD

normal phenotype

no abnormal phenotype detected ( J:239583 )

DMDD

reproductive system

female infertility ( J:211773 )

♀

IMPC - WTSI

male infertility ( J:211773 )

♂

IMPC - WTSI

skeleton

abnormal cervical rib ( J:239583 )

DMDD

abnormal bone structure ( J:211773 )

♀

IMPC - WTSI

decreased bone mineral content ( J:211773 )

IMPC - WTSI

decreased bone mineral density ( J:211773 )

IMPC - WTSI

vision/eye

abnormal cornea morphology ( J:211773 )

IMPC - WTSI

corneal opacity ( J:211773 )

IMPC - WTSI

abnormal lens morphology ( J:211773 )

♂

IMPC - WTSI

fused cornea and lens ( J:211773 )

IMPC - WTSI

cataract ( J:211773 )

♂

IMPC - WTSI

small lens ( J:239583 )

DMDD

retrolental blood ( J:239583 )

DMDD

Genotype
MGI:6721055

hm2

• Allelic Composition: Camsap3^{tm1a(EUCOMM)Wtsi}/Camsap3^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N
• Cell Lines: EPD0453_4_A04

nervous system

abnormal axon morphology ( J:265916 )

• in vitro, cultured hippocampal neurons from E16.5 embryos exhibit enhanced multiple axon formation at DIV8, indicating neuron polarity defects

abnormal neuron polarity ( J:265916 )

• in vitro, cultured hippocampal neurons from E16.5 embryos exhibit enhanced multiple axon formation at DIV8, indicating neuron polarity defects

Genotype
MGI:6262028

ht3

• Allelic Composition: Camsap3^{tm1a(EUCOMM)Wtsi}/Camsap3⁺
• Genetic Background: C57BL/6N-Camsap3^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0453_4_A04

Data Sources

IMPC Data for Camsap3

hematopoietic system

decreased hemoglobin content ( J:211773 )

♂

IMPC - WTSI

homeostasis/metabolism

decreased circulating cholesterol level ( J:211773 )

♂

IMPC - WTSI

decreased circulating HDL cholesterol level ( J:211773 )

♂

IMPC - WTSI