Phenotypes associated with this allele

• Allele Symbol: Emilin1^tm1Gmb
• Allele Name: targeted mutation 1, Giorgio M Bressan
• Allele ID: MGI:3028845
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Emilin1^tm1Gmb/Emilin1^tm1Gmb	either: (involves: 129/Sv * C57BL/6J) or (involves: 129/Sv * CD-1)	MGI:3028850
hm2	Emilin1^tm1Gmb/Emilin1^tm1Gmb	involves: 129S1/Sv * 129X1/SvJ	MGI:5755410
cx3	Emilin1^tm1Gmb/Emilin1^tm1Gmb Emilin2^tm1.2Jhp/Emilin2^tm1.2Jhp	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5755409

Genotype
MGI:3028850

hm1

• Allelic Composition: Emilin1^tm1Gmb/Emilin1^tm1Gmb
• Genetic Background: either: (involves: 129/Sv * C57BL/6J) or (involves: 129/Sv * CD-1)

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

cardiovascular system

abnormal aorta wall morphology ( J:87574 )

• endothelial cells and smooth muscle cells with enlarged endoplasmic reticulum, swollen or dense mitochondria, and on rare occasions with condensed chromatin in the nuclei

abnormal aorta elastic tissue morphology ( J:87574 )

• delamination and increased interruption of elastic lamellae seen in cross section

• lamellae are dishomogeneous and have a frayed texture

• small elastin deposits seen between lamellae in oblique and tangential sections

• regions of fragmentation of elastic lamellae

• elastic fibers: amorphous core is irregular giving the fiber a porous appearance

• increased space between endothelial cell membrane and internal elastic lamella

• elastin extensions from lamellae to plasma membrane are disarranged

integument

abnormal dermal layer morphology ( J:87574 )

• elastic fibers: amorphous core is irregular giving the fiber a porous appearance

Genotype
MGI:5755410

hm2

• Allelic Composition: Emilin1^tm1Gmb/Emilin1^tm1Gmb
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

homeostasis/metabolism

decreased platelet aggregation ( J:226863 )

• in ADP platelet-rich plasma, with collagen stimulated platelets in platelet-rich plasma and with washed platelets stimulated with thrombin

increased prothrombin time ( J:226863 )

• in both platelet-rich and platelet-poor plasma with quicker clot retraction compared with wild-type mice

hematopoietic system

decreased platelet aggregation ( J:226863 )

• in ADP platelet-rich plasma, with collagen stimulated platelets in platelet-rich plasma and with washed platelets stimulated with thrombin

Genotype
MGI:5755409

cx3

• Allelic Composition: Emilin1^tm1Gmb/Emilin1^tm1Gmb; Emilin2^tm1.2Jhp/Emilin2^tm1.2Jhp
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

homeostasis/metabolism

abnormal blood coagulation ( J:226863 )

• mice exhibit delayed clot retraction compared with wild-type mice as in Emilin2^tm1.2Jhp homozygotes

• however, mice exhibit normal clotting time

decreased platelet aggregation ( J:226863 )

• in ADP platelet-rich plasma, with collagen stimulated platelets in platelet-rich plasma and with washed platelets stimulated with thrombin

• of ADP stimulated platelets

hematopoietic system

decreased platelet aggregation ( J:226863 )

• in ADP platelet-rich plasma, with collagen stimulated platelets in platelet-rich plasma and with washed platelets stimulated with thrombin

• of ADP stimulated platelets