Phenotypes associated with this allele

• Allele Symbol: Zdhhc16^tm1Goff
• Allele Name: targeted mutation 1, Stephen P Goff
• Allele ID: MGI:5907020
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zdhhc16^tm1Goff/Zdhhc16^tm1Goff	involves: 129S1/Sv	MGI:5907021
cx2	Pln^tm1Egk/Pln^tm1Egk Zdhhc16^tm1Goff/Zdhhc16^tm1Goff	involves: 129S1/Sv * 129S2/SvPas	MGI:5907022

Genotype
MGI:5907021

hm1

• Allelic Composition: Zdhhc16^tm1Goff/Zdhhc16^tm1Goff
• Genetic Background: involves: 129S1/Sv

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

mortality/aging

neonatal lethality ( J:228307 )

• only survive for about 1d after birth

prenatal lethality, incomplete penetrance ( J:228307 )

• fewer than expected homozygotes are found at birth (11% compared to expected 25%)

behavior/neurological

abnormal suckling behavior ( J:228307 )

• newborn pups have feeding difficulties

decreased locomotor activity ( J:228307 )

• newborn pups are generally inactive

vision/eye

abnormal cornea morphology ( J:228307 )

abnormal eye development ( J:228307 )

• about 55% of embryos show eye defects including absent or underdeveloped eyes accompanied by malformations of the cornea and retina

abnormal retina morphology ( J:228307 )

cardiovascular system

abnormal fetal cardiomyocyte morphology ( J:228307 )

• cardiomyocyte disarray

• abnormal cardiomyocyte nucleus morphology

increased heart ventricle size ( J:228307 )

• thinner and enlarged ventricular wall

thin ventricular wall ( J:228307 )

• thinner and enlarged ventricular wall

decreased cardiac output ( J:228307 )

• at E18.5 output is 32% of wild-type

decreased cardiac stroke volume ( J:228307 )

• a E18.5 stroke volume is 63% of wild-type controls and left ventricular internal diameter in diastole is modestly reduced

decreased heart rate ( J:228307 )

cardiomyopathy ( J:228307 )

muscle

cardiomyopathy ( J:228307 )

abnormal sarcomere morphology ( J:228307 )

• sarcomere numbers in the heart are decreased to 42% of controls

embryo

decreased embryo size ( J:228307 )

• at E10.5

growth/size/body

decreased embryo size ( J:228307 )

• at E10.5

decreased birth body size ( J:228307 )

• slightly runted

Genotype
MGI:5907022

cx2

• Allelic Composition: Pln^tm1Egk/Pln^tm1Egk; Zdhhc16^tm1Goff/Zdhhc16^tm1Goff
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas

mortality/aging

neonatal lethality, complete penetrance ( J:228307 )

• fail to survive to P2; however, almost all survive to birth

cardiovascular system

cardiovascular system phenotype ( J:228307 )

N • double mutation rescues the histopathological defects (cardiomyocyte disarray, nuclear malformations, decreased sarcomere numbers) and bradycardia seen in Zdhhc16 null mice

vision/eye

abnormal eye development ( J:228307 )

• eye defects