Phenotypes associated with this allele

• Allele Symbol: Samd1^tm1Pfi
• Allele Name: targeted mutation 1, Pfizer, Ltd
• Allele ID: MGI:7451188
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Samd1^tm1Pfi/Samd1^tm1Pfi	involves: C57BL/6J * C57BL/6N	MGI:7544881
ht2	Samd1^tm1Pfi/Samd1^+	involves: C57BL/6J * C57BL/6N	MGI:7544880

Genotype
MGI:7544881

hm1

• Allelic Composition: Samd1^tm1Pfi/Samd1^tm1Pfi
• Genetic Background: involves: C57BL/6J * C57BL/6N

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

mortality/aging

lethality during fetal growth through weaning, complete penetrance ( J:333561 )

• mice die between E14.5 and E18.5

embryo

abnormal embryo development ( J:333561 )

• delayed and small at E14.5

pale placenta ( J:333561 )

absent umbilical cord blood vessels ( J:333561 )

absent visceral yolk sac ( J:333561 )

• no obvious blood vessels with only a few broken thin red lines

pale yolk sac ( J:333561 )

cardiovascular system

abnormal vascular development ( J:333561 )

• failure of blood vessel maturation leading to the collapse of many organs and scattered and pooled red blood cells at E14.5

abnormal heart development ( J:333561 )

• heart degradation with partial collapse of the atria, ventricles, and pulmonary trunk, and separation of the endocardium from the chamber walls at E14.5 due to collapse of the circulatory system

hemorrhage ( J:333561 )

• bloody fluid in the midsection

poor circulation ( J:333561 )

• at E14.5 due to degraded blood vessels

integument

pallor ( J:333561 )

craniofacial

abnormal neurocranium morphology ( J:333561 )

• lack of skull vault at E15.5

growth/size/body

decreased fetal size ( J:333561 )

• at E14.5

fetal growth retardation ( J:333561 )

• at E14.5

hematopoietic system

decreased erythrocyte cell number ( J:333561 )

• in the heart, lung, liver, and skin at E14.5

homeostasis/metabolism

edema ( J:333561 )

• at E14.5

liver/biliary system

abnormal liver development ( J:333561 )

• liver development stops after E12.5 due to collapse of the circulatory system

muscle

skeletal muscle degeneration ( J:333561 )

• at E14.5

nervous system

exencephaly ( J:333561 )

• at E15.5

respiratory system

abnormal lung development ( J:333561 )

• fragmentation of the lung at E14.5 due to collapse of the circulatory system

abnormal bronchiole morphology ( J:333561 )

• small at E14.5

skeleton

abnormal neurocranium morphology ( J:333561 )

• lack of skull vault at E15.5

premature bone ossification ( J:333561 )

• premature ossification of ribs at E14.5

Genotype
MGI:7544880

ht2

• Allelic Composition: Samd1^tm1Pfi/Samd1⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N

mortality/aging

postnatal lethality, incomplete penetrance ( J:333561 )

homeostasis/metabolism

increased circulating angiotensin II level ( J:333561 )

increased circulating corticosterone level ( J:333561 )

abnormal circulating insulin level ( J:333561 )

• mice fed a high-fat diet no increase in insulin levels unlike wild-type mice

increased circulating aldosterone level ( J:333561 )

decreased circulating HDL cholesterol level ( J:333561 )

• in mice fed a high-fat diet

decreased circulating VLDL cholesterol level ( J:333561 )

• in mice fed a high-fat diet

abnormal glucose tolerance ( J:333561 )

• mice fed a high-fat diet exhibit less severe glucose intolerance compared with wild-type mice

adipose tissue

abnormal adipose tissue amount ( J:333561 )

• mice fed a high-fat diet exhibit reduced increases in body fat depots compared with wild-type mice

growth/size/body

decreased body weight ( J:333561 )

• whether fed standard chow or a high-fat diet