Phenotypes associated with this allele

• Allele Symbol: Srf^tm2.1Nor
• Allele Name: targeted mutation 2.1, Alfred Nordheim
• Allele ID: MGI:2385465
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Srf^tm1Rjs/Srf^tm2.1Nor Tg(Myh6-cre)2182Mds/0	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * FVB/N	MGI:3608600
cn2	Srf^tm2.1Nor/Srf^tm2.1Nor Tg(Ckmm-cre)5Khn/0	involves: 129P2/OlaHsd * C57BL/6	MGI:3530888
cn3	Srf^tm2.1Nor/Srf^tm2.1Nor Tg(Myog-cre)1Eno/0	involves: 129P2/OlaHsd * C57BL/6	MGI:3530886

Genotype
MGI:3608600

cn1

• Allelic Composition: Srf^tm1Rjs/Srf^tm2.1Nor; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * FVB/N

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:101311 )

• no viable embryos are found beyond E12.5

cardiovascular system

abnormal myocardium layer morphology ( J:101311 )

• sarcomere organization is disrupted in hearts

abnormal fetal atrioventricular canal morphology ( J:101311 )

• exhibit less constriction in the atrial ventricular canal at E10.5

abnormal heart ventricle morphology ( J:101311 )

• ventricular wall is hypoplastic with fewer trabeculae, ventricular wall compact layer is thinner, and cellular wall expansion is blocked

abnormal interventricular septum morphology ( J:101311 )

• intraventricular septation is less developed

abnormal interventricular groove morphology ( J:101311 )

• exhibit poorly developed intraventricular groove at E10.5

abnormal pericardium morphology ( J:101311 )

• dilated pericardial walls at E10.25

distended pericardium ( J:101311 )

• seen at E10.25

pericardial effusion ( J:101311 )

• show severe pericardial effusion at E11.5

irregular heartbeat ( J:101311 )

• lose rhythmic beating between E10.5 and E11.5

embryo

embryonic growth arrest ( J:101311 )

• some embryos arrest at the heart-looping stage (around E10.5-11.5)

muscle

abnormal myocardium layer morphology ( J:101311 )

• sarcomere organization is disrupted in hearts

increased cardiomyocyte apoptosis ( J:101311 )

homeostasis/metabolism

pericardial effusion ( J:101311 )

• show severe pericardial effusion at E11.5

cellular

increased cardiomyocyte apoptosis ( J:101311 )

Genotype
MGI:3530888

cn2

• Allelic Composition: Srf^tm2.1Nor/Srf^tm2.1Nor; Tg(Ckmm-cre)5Khn/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Severe runting and skeletal muscle abnormalities in Srf^tm2.1Nor/Srf^tm2.1Nor Tg(Ckmm-cre)5Khn/0 mice

mortality/aging

postnatal lethality, complete penetrance ( J:96122 )

• mutants are born alive and are able to feed but die by P7

behavior/neurological

lethargy ( J:96122 )

• starts around P3

growth/size/body

postnatal growth retardation ( J:96122 )

• starts around P3

muscle

abnormal skeletal muscle fiber morphology ( J:96122 )

• at P3 myofibers are thinner than normal; however, no cardiac abnormalities are seen

• less severe than in homozygous Srf conditional mutants hemizygous for Tg(Myog-cre)1Eno

Genotype
MGI:3530886

cn3

• Allelic Composition: Srf^tm2.1Nor/Srf^tm2.1Nor; Tg(Myog-cre)1Eno/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Curved spine and cyanosis in Srf^tm2.1Nor/Srf^tm2.1Nor Tg(Myog-cre)1Eno/0 mice

mortality/aging

neonatal lethality, complete penetrance ( J:96122 )

• mutants die after birth from an inability to breathe

behavior/neurological

no spontaneous movement ( J:96122 )

• mutants are immobile at birth

growth/size/body

decreased birth weight ( J:96122 )

• mutants weigh less at birth as a result of decreased muscle mass

homeostasis/metabolism

cyanosis ( J:96122 )

muscle

abnormal skeletal muscle fiber morphology ( J:96122 )

• muscle fibers are thinner than normal with large interstitial spaces however the normal number of nuclei are seen indicating a decrease in growth but not proliferation of the cells

• the sarcomere units are smaller and the fibers are narrow and disorganized

abnormal diaphragm morphology ( J:96122 )

• abnormalities in the diaphragm muscle prevent breathing

decreased skeletal muscle mass ( J:96122 )

respiratory system

respiratory failure ( J:96122 )

• neonates are unable to breathe

skeleton

kyphosis ( J:96122 )

cardiovascular system

cardiovascular system phenotype ( J:96122 )

N • no cardiac abnormalities are seen and the heart is beating at birth