Phenotypes Associated with This Genotype

Genotype
MGI:3045809

• Allelic Composition: Fgf15^tm1Sms/Fgf15^tm1Sms
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

Fgf15^tm1Sms/Fgf15^tm1Sms mice display cardiovascular defects

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:97317 )

• on a predominantly C57BL/6 genetic background, homozygotes are obtained at a slightly reduced Mendelian frequency between E13.5 and E18.5 (16.37% vs expected 25%)

postnatal lethality ( J:97317 )

• on a predominantly C57BL/6 genetic background, a significant number of homozygotes die between P0 and P7

• only about 3% of homozygotes are recovered by P21

cardiovascular system

abnormal aorta morphology ( J:97317 )

• at E18.5, 63.2% of homozygotes exhibit failure of the aorta to wedge between the mitral and tricuspid atrioventricular valves

aberrant origin of the right subclavian artery ( J:97317 )

• at E18.5, aberrant origin of the right subclavian artery is noted in 11.1% of homozygotes

abnormal cardiac outflow tract development ( J:97317 )

• at E18.5, most homozygotes show abnormal cardiac outflow tract alignment, such as abnormal positioning of the aorta relative to the pulmonary trunk and AV valves; however, the behavior of secondary heart field cells appears unaffected

• at E18.5, only 1 of 19 mutant hearts appears grossly normal, consistent with a small number of viable "escapers"

• notably, at E10.5 (but not earlier) homozygotes show a small but significant reduction in cell proliferation in the outflow tract myocardium, in the absence of abnormal apoptosis

double outlet right ventricle ( J:97317 )

• at E18.5, 26.3% of homozygotes display double outlet right ventricle

overriding aortic valve ( J:97317 )

• at E18.5, 21.1% of homozygotes display an overriding aorta

atrial septal defect ( J:97317 )

• at E18.5, 5.26% of homozygotes display an atrial septal defect

atrioventricular septal defect ( J:97317 )

• at E18.5, 5.26% of homozygotes display an atrioventricular canal defect

abnormal interventricular septum morphology ( J:97317 )

• at E18.5, most homozygotes show abnormal interventricular septation

ventricular septal defect ( J:97317 )

• at E18.5, ~90% of homozygotes show either a membranous ventricular septal defect (VSD), a muscular VSD, in which the septal defect traverses the muscular wall of the septum, or both

perimembraneous ventricular septal defect ( J:97317 )

muscular ventricular septal defect ( J:97317 )

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:90407 )

N • surviving homozygotes exhibit normal balance and auditory brainstem responses

N • in addition, homozygotes display normal otic induction and otic vesicle formation at E9.5-E10.5