Phenotypes associated with this allele

• Allele Symbol: Slc13a4^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4441655
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc13a4^tm1a(EUCOMM)Wtsi/Slc13a4^tm1a(EUCOMM)Wtsi	involves: C57BL/6J * C57BL/6N	MGI:5896624
ht2	Slc13a4^tm1a(EUCOMM)Wtsi/Slc13a4^+	involves: C57BL/6J * C57BL/6N	MGI:5896625

Genotype
MGI:5896624

hm1

• Allelic Composition: Slc13a4^{tm1a(EUCOMM)Wtsi}/Slc13a4^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6J * C57BL/6N

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:239786 )

• gross abnormalities are seen at E12.5 and all are dead by E18.5

embryo

abnormal placental transport ( J:239786 )

• impaired placental sulfate transfer at E12.5

• however, placental morphology is similar to controls

homeostasis/metabolism

subcutaneous edema ( J:239786 )

• at E16.5

abnormal mineral level ( J:239786 )

• embryos display a ~50% reduction in elemental sulfur

skeleton

abnormal skeleton morphology ( J:239786 )

• skeletal defects

failure of bone ossification ( J:239786 )

• complete loss of ossification in the fetus at E16.5

craniofacial

abnormal craniofacial morphology ( J:239786 )

• craniofacial malformations are seen at E16.5

abnormal palate development ( J:239786 )

• failure of elevation and fusion

cleft palate ( J:239786 )

• at E14.5

vision/eye

abnormal lens morphology ( J:239786 )

• thickened at E14.5

coloboma ( J:239786 )

• iris and lens coloboma at E14.5

iris coloboma ( J:239786 )

cardiovascular system

abnormal developmental vascular remodeling ( J:239786 )

• disrupted with reduced complexity at E14.5

hemorrhage ( J:239786 )

• vascular hemorrhaging

integument

subcutaneous edema ( J:239786 )

• at E16.5

pallor ( J:239786 )

• at E16.5

growth/size/body

abnormal palate development ( J:239786 )

• failure of elevation and fusion

cleft palate ( J:239786 )

• at E14.5

digestive/alimentary system

abnormal palate development ( J:239786 )

• failure of elevation and fusion

cleft palate ( J:239786 )

• at E14.5

Genotype
MGI:5896625

ht2

• Allelic Composition: Slc13a4^{tm1a(EUCOMM)Wtsi}/Slc13a4⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N

skeleton

abnormal thoracic cage morphology ( J:239786 )

• disorganized rib cage at E16.5

decreased bone mineralization ( J:239786 )

• decreased calcification at E16.5 in areas of the axial skeleton and skull