Phenotypes associated with this allele

• Allele Symbol: Slx4^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4432843
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slx4^tm1a(EUCOMM)Wtsi/Slx4^tm1a(EUCOMM)Wtsi	B6JTyr;B6N-Slx4^tm1a(EUCOMM)Wtsi/Wtsi	MGI:5781749
hm2	Slx4^tm1a(EUCOMM)Wtsi/Slx4^tm1a(EUCOMM)Wtsi	C57BL/6N-Slx4^tm1a(EUCOMM)Wtsi	MGI:4938269
ht3	Slx4^tm1a(EUCOMM)Wtsi/Slx4^+	B6JTyr;B6N-Slx4^tm1a(EUCOMM)Wtsi/Wtsi	MGI:5782193

Genotype
MGI:5781749

hm1

• Allelic Composition: Slx4^{tm1a(EUCOMM)Wtsi}/Slx4^{tm1a(EUCOMM)Wtsi}
• Genetic Background: B6JTyr;B6N-Slx4^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0028_7_A08

Data Sources

IMPC Data for Slx4

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

craniofacial

abnormal cranium morphology ( J:175295 )

♂

IMPC - WTSI

growth/size/body

decreased body weight ( J:165965 )

♂

IMPC - WTSI

hematopoietic system

thrombocytopenia ( J:165965 )

♂

IMPC - WTSI

skeleton

abnormal cranium morphology ( J:175295 )

♂

IMPC - WTSI

vision/eye

abnormal eye morphology ( J:165965 )

♂

IMPC - WTSI

abnormal placement of pupils ( J:165965 )

♂

IMPC - WTSI

abnormal cornea morphology ( J:165965 )

♂

IMPC - WTSI

cornea opacity ( J:165965 )

♂

IMPC - WTSI

abnormal eye size ( J:165965 , J:175295 )

IMPC - WTSI ♂ (J:165965)

IMPC - WTSI ♂ (J:175295)

anophthalmia ( J:175295 )

♂

IMPC - WTSI

Genotype
MGI:4938269

hm2

• Allelic Composition: Slx4^{tm1a(EUCOMM)Wtsi}/Slx4^{tm1a(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Slx4^{tm1a(EUCOMM)Wtsi}

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:168567 )

• some mice die between E13.5 and P21

perinatal lethality, incomplete penetrance ( J:168567 )

• some mice shortly after birth

reproductive system

absent oocytes ( J:168567 )

♀ • at 16 weeks

abnormal primordial germ cell morphology ( J:168567 )

• mice exhibit primordial germ cell failure compared with wild-type mice

abnormal male germ cell apoptosis ( J:168567 )

♂

absent corpus luteum ( J:168567 )

♀ • at 16 weeks

absent mature ovarian follicles ( J:168567 )

♀ • at 16 weeks

abnormal spermatogenesis ( J:168567 )

♂ • at 8 weeks

azoospermia ( J:168567 )

♂ • at 16 weeks

oligozoospermia ( J:168567 )

♂ • at 8 weeks

reduced female fertility ( J:168567 )

♀

decreased litter size ( J:168567 )

reduced male fertility ( J:168567 )

♂

vision/eye

abnormal eye morphology ( J:168567 )

• mice exhibit an increase prevalence in ocular abnormalities compared with wild-type mice

• the globe is absent in some mice

abnormal retina vasculature morphology ( J:168567 )

• mice exhibit abnormal retinal vasculature and Bergmesiter's papilla compared with wild-type mice

absent optic nerve ( J:168567 )

• in some mice

abnormal iris morphology ( J:168567 )

• some mice exhibit abnormal iris position compared with wild-type mice

abnormal pupil morphology ( J:168567 )

abnormal cornea morphology ( J:168567 )

cornea opacity ( J:168567 )

• in some mice

microphthalmia ( J:168567 )

• in some mice

abnormal eyelid aperture ( J:168567 )

• some mice exhibit incomplete eyelid closure unlike wild-type mice

anophthalmia ( J:168567 )

• unilateral in some mice

skeleton

abnormal cranium morphology ( J:168567 )

enlarged cranium ( J:168567 )

abnormal tooth morphology ( J:168567 )

• in some mice

domed cranium ( J:168567 )

• in mice that die shortly after birth

increased caudal vertebrae number ( J:168567 )

abnormal spine curvature ( J:168567 )

• in all mice

vertebral fusion ( J:168567 )

• in all mice

growth/size/body

abnormal tooth morphology ( J:168567 )

• in some mice

decreased body size ( J:168567 )

• mice that die shortly after birth are severely runted compared with wild-type mice

decreased body weight ( J:168567 )

• at 12 weeks

postnatal growth retardation ( J:168567 )

• from birth

cellular

absent oocytes ( J:168567 )

♀ • at 16 weeks

azoospermia ( J:168567 )

♂ • at 16 weeks

oligozoospermia ( J:168567 )

♂ • at 8 weeks

abnormal primordial germ cell morphology ( J:168567 )

• mice exhibit primordial germ cell failure compared with wild-type mice

increased sensitivity to induced cell death ( J:188123 )

• B cells, erythroid progenitor and granulocyte-macrophage progenitor cells are more sensitive to acetaldehyde

abnormal male germ cell apoptosis ( J:168567 )

♂

early cellular replicative senescence ( J:168567 )

• in mouse embryonic fibroblasts due to chromosomal instability

chromosomal instability ( J:168567 )

• in hemotopoietic cells

• in mouse embryonic fibroblasts

hematopoietic system

decreased common myeloid progenitor cell number ( J:168567 )

abnormal lymphopoiesis ( J:168567 )

• cultured bone marrow cells produce fewer pre-B cell lymphoid lineages compared with wild-type cells

increased erythrocyte cell number ( J:168567 )

• the number of micronucleated normochromic erythrocytes is increased 2.5-fold compared to in wild-type mice

thrombocytopenia ( J:168567 )

decreased leukocyte cell number ( J:168567 )

nervous system

nervous system phenotype ( J:168567 )

N • mice do not exhibit neurodegeneration

hydrocephaly ( J:168567 )

obstructive hydrocephaly ( J:168567 )

• the fourth ventricle remains intact suggesting obstructive hydrocephalus

dilated lateral ventricle ( J:168567 )

abnormal third ventricle morphology ( J:168567 )

• mice exhibit rupture of the third ventricle unlike wild-type mice

abnormal cerebral cortex morphology ( J:168567 )

• mice exhibit rupture of the cerebral cortex unlike wild-type mice

thin cerebral cortex ( J:168567 )

absent optic nerve ( J:168567 )

• in some mice

immune system

abnormal lymphopoiesis ( J:168567 )

• cultured bone marrow cells produce fewer pre-B cell lymphoid lineages compared with wild-type cells

decreased leukocyte cell number ( J:168567 )

limbs/digits/tail

increased caudal vertebrae number ( J:168567 )

homeostasis/metabolism

increased circulating glucose level ( J:168567 )

• in some mice

impaired glucose tolerance ( J:168567 )

• mice exhibit an increased prevalence of glucose intolerance compared with wild-type mice

increased physiological sensitivity to xenobiotic ( J:188123 )

• B cells, erythroid progenitor and granulocyte-macrophage progenitor cells are more sensitive to acetaldehyde

cardiovascular system

abnormal retina vasculature morphology ( J:168567 )

• mice exhibit abnormal retinal vasculature and Bergmesiter's papilla compared with wild-type mice

craniofacial

abnormal cranium morphology ( J:168567 )

enlarged cranium ( J:168567 )

abnormal tooth morphology ( J:168567 )

• in some mice

domed cranium ( J:168567 )

• in mice that die shortly after birth

endocrine/exocrine glands

absent corpus luteum ( J:168567 )

♀ • at 16 weeks

absent mature ovarian follicles ( J:168567 )

♀ • at 16 weeks

Genotype
MGI:5782193

ht3

• Allelic Composition: Slx4^{tm1a(EUCOMM)Wtsi}/Slx4⁺
• Genetic Background: B6JTyr;B6N-Slx4^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0028_7_A08

Data Sources

IMPC Data for Slx4

skeleton

increased bone mineral density ( J:165965 )

IMPC - WTSI