Phenotypes associated with this allele

• Allele Symbol: Slc8a1^tm1Hssh
• Allele Name: targeted mutation 1, Hee-Sup Shin
• Allele ID: MGI:2384413
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc8a1^tm1Hssh/Slc8a1^tm1Hssh	involves: 129S4/SvJae * C3H * C57BL/6	MGI:3619132
hm2	Slc8a1^tm1Hssh/Slc8a1^tm1Hssh	involves: 129S4/SvJae * C57BL/6J	MGI:2384436
cx3	Slc8a1^tm1Hssh/Slc8a1^tm1Hssh Tg(Myh6-SLC8A1)AMord/?	involves: 129S4/SvJae * C3H * C57BL/6	MGI:3619133

Genotype
MGI:3619132

hm1

• Allelic Composition: Slc8a1^tm1Hssh/Slc8a1^tm1Hssh
• Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:106177 )

• at E9.5

cardiovascular system

abnormal placenta vasculature ( J:106177 )

• a compact nonvascularized cell layer is seen in place of the normal capillary bed

abnormal myocardium layer morphology ( J:106177 )

• increased apoptosis is seen in the myocardium

distended pericardium ( J:106177 )

• seen at E9.5

decreased heart rate ( J:106177 )

• at E9.0 and E10.5, heart rate is reduced to about 4 and 0 bpm compared to 72 and 76 bpm in wild-type and 46 and 57 bpm in partially rescued embryos

embryo

abnormal placenta vasculature ( J:106177 )

• a compact nonvascularized cell layer is seen in place of the normal capillary bed

embryonic growth arrest ( J:106177 )

• at about E9.0

absent placental labyrinth ( J:106177 )

abnormal visceral yolk sac morphology ( J:106177 )

• the mesoderm and endoderm are separate with few areas of contact

abnormal vitelline vascular remodeling ( J:106177 )

• no definitive vasculature is present at E9.5; however some primitive vascular cells are present

muscle

abnormal myocardium layer morphology ( J:106177 )

• increased apoptosis is seen in the myocardium

Genotype
MGI:2384436

hm2

• Allelic Composition: Slc8a1^tm1Hssh/Slc8a1^tm1Hssh
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:74096 )

• at about E9.5

cardiovascular system

trabecula carnea hypoplasia ( J:74096 )

• at E9.5 inner trabeculation is poorly developed

abnormal heart development ( J:74096 )

• the heart loops normally but fails to develop further with only thin atrial and ventricular walls present at E9.0

• at E8.5-E9.5, increased apoptosis is seen in the myocardium; however no significant difference is seen in myocardial proliferation

absent atrioventricular cushions ( J:74096 )

abnormal heart atrium morphology ( J:74096 )

• at E9.0 the atrial wall is thin

abnormal endocardium morphology ( J:74096 )

• at E9.5 the endocardium is less complex

thin ventricular wall ( J:74096 )

• at E9.0 and E9.5 the ventricular wall is thin with irregularly arranged cardiomyocytes

distended pericardium ( J:74096 )

• seen at E9.5

decreased heart rate ( J:74096 )

• at E9.0, only weak atrial contractions are seen and the heart rate is 3.8 +/- 1.5 bpm compared to 53.1 +/- 5.9 bpm in wild-type mice

embryo

embryonic growth arrest ( J:74096 )

• at about E9.0; however, development of the neural tube, somites, head folds, and limb buds, and hematopoiesis are normal until E9.0

embryo tissue necrosis ( J:74096 )

• at E9.5

muscle

trabecula carnea hypoplasia ( J:74096 )

• at E9.5 inner trabeculation is poorly developed

Genotype
MGI:3619133

cx3

• Allelic Composition: Slc8a1^tm1Hssh/Slc8a1^tm1Hssh; Tg(Myh6-SLC8A1)AMord/?
• Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:106177 )

• between E10.5 and E11.5, about 1 day longer than null mice without the transgene

cardiovascular system

abnormal placenta vasculature ( J:106177 )

• a compact nonvascularized cell layer is seen in place of the normal capillary bed

distended pericardium ( J:106177 )

• seen at E9.5; however no increase in apoptosis is seen in the myocardium unlike in null mice without the transgene

decreased heart rate ( J:106177 )

• at E9.0 and E10.5, heart rate is reduced to about 46 and 57 bpm compared to 72 and 76 bpm in wild-type but increased compared to null mice without the transgene (about 4 and 0 bpm)

embryo

abnormal placenta vasculature ( J:106177 )

• a compact nonvascularized cell layer is seen in place of the normal capillary bed

embryonic growth retardation ( J:106177 )

• begins around E9.0; however, the increased number of somites and presence of a forelimb bud at E10.5 indicate that the partially rescued embryos develop beyond E9.0 when null embryos without the transgene stop developing

absent placental labyrinth ( J:106177 )

abnormal visceral yolk sac morphology ( J:106177 )

• the mesoderm and endoderm are separate with few areas of contact

• at E9.5-E10.5, the yolk sac is wrinkled, shrunken, and anemic

abnormal vitelline vascular remodeling ( J:106177 )

• no definitive vasculature is present at E9.5; however some primitive vascular cells are present and hematopoiesis is normal

growth/size/body

embryonic growth retardation ( J:106177 )

• begins around E9.0; however, the increased number of somites and presence of a forelimb bud at E10.5 indicate that the partially rescued embryos develop beyond E9.0 when null embryos without the transgene stop developing