Phenotypes associated with this allele

• Allele Symbol: Dock1^tm1Jfco
• Allele Name: targeted mutation 1, Jean-Francois Cote
• Allele ID: MGI:3828065
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dock1^tm1Jfco/Dock1^tm1Jfco	involves: 129	MGI:5301324
hm2	Dock1^tm1Jfco/Dock1^tm1Jfco	involves: 129/Sv * C57BL/6	MGI:3828076
cx3	Dock1^tm1Jfco/Dock1^tm1Jfco Dock5^Gt(AN0268)Wtsi/Dock5^Gt(AN0268)Wtsi	involves: 129/Sv * 129P2/OlaHsd * C57BL/6	MGI:3828078
cx4	Dock1^tm1Jfco/Dock1^+ Dock5^Gt(AN0268)Wtsi/Dock5^Gt(AN0268)Wtsi	involves: 129/Sv * 129P2/OlaHsd * C57BL/6	MGI:3828079
cx5	Dock1^tm1Jfco/Dock1^+ Dock5^Gt(AN0268)Wtsi/Dock5^+	involves: 129/Sv * 129P2/OlaHsd * C57BL/6	MGI:3828080

Genotype
MGI:5301324

hm1

• Allelic Composition: Dock1^tm1Jfco/Dock1^tm1Jfco
• Genetic Background: involves: 129

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

muscle

abnormal myogenesis ( J:178190 )

homeostasis/metabolism

edema ( J:178190 )

• severe edema in a large area of the back at E14.5

cardiovascular system

thick mitral valve cusps ( J:178190 )

• sometimes fused as well

ventricular septal defect ( J:178190 )

• at E14.5

abnormal heart right ventricle outflow tract morphology ( J:178190 )

• double outlet at E14.5

Genotype
MGI:3828076

hm2

• Allelic Composition: Dock1^tm1Jfco/Dock1^tm1Jfco
• Genetic Background: involves: 129/Sv * C57BL/6

mortality/aging

lethality at weaning, complete penetrance ( J:143342 )

• although present in Mendelian ratios at E18.5, all mice die prior to weaning

muscle

abnormal muscle development ( J:143342 )

• at E14.5, muscle mass and myoblast fusion are decreased compared to in wild-type mice

• in culture, myoblasts are unable to form long nucleated fibers after 4 days unlike wild-type cells

• however, myoblast differentiation and migration of muscle progenitors are normal

decreased skeletal muscle fiber diameter ( J:143342 )

• at E12.5, E13.5 and E18.5, the diameter of muscle fibers is decreased compared to in wild-type mice

abnormal diaphragm morphology ( J:143342 )

• at E14.5 and E16.5, the attachment of the diaphragm to the intercostal muscles is severely impaired

thin diaphragm muscle ( J:143342 )

• at E14.5, and E16.5

abnormal intercostal muscle morphology ( J:143342 )

• intercostal muscles are reduced in size leading to ribs stacked closer together than in wild-type mice

decreased skeletal muscle mass ( J:143342 )

• at E16.5 and E18.5, the size of deep back muscles, tongue and limb muscles is reduced compared to in wild-type mice

abnormal muscle physiology ( J:143342 )

• at E13.5, apoptosis of myofibers is increased compared to in wild-type mice

respiratory system

atelectasis ( J:143342 )

• lungs do not inflate

growth/size/body

decreased birth body size ( J:143342 )

• at birth, mice are smaller than normal and fail to straighten

homeostasis/metabolism

cyanosis ( J:143342 )

• within minutes of birth

Genotype
MGI:3828078

cx3

• Allelic Composition: Dock1^tm1Jfco/Dock1^tm1Jfco; Dock5^{Gt(AN0268)Wtsi}/Dock5^{Gt(AN0268)Wtsi}
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:143342 )

• no mice are present at E14.5

embryo

abnormal embryo development ( J:143342 )

• mice fail to undergo early embryogenesis and instead undergo necrosis

Genotype
MGI:3828079

cx4

• Allelic Composition: Dock1^tm1Jfco/Dock1⁺; Dock5^{Gt(AN0268)Wtsi}/Dock5^{Gt(AN0268)Wtsi}
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

muscle

decreased skeletal muscle fiber diameter ( J:143342 )

• mice exhibit variably thin myofibrils

Genotype
MGI:3828080

cx5

• Allelic Composition: Dock1^tm1Jfco/Dock1⁺; Dock5^{Gt(AN0268)Wtsi}/Dock5⁺
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

muscle

muscle phenotype ( J:143342 )

N • intercostal muscles develop normally