Phenotypes associated with this allele

• Allele Symbol: Cdh2^tm1Hyn
• Allele Name: targeted mutation 1, Richard Hynes
• Allele ID: MGI:1861181
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cdh2^tm1Hyn/Cdh2^tm1Hyn	involves: 129S2/SvPas	MGI:2170969
cn2	Cdh2^tm1Glr/Cdh2^tm1Hyn A1cf^Tg(Myh6-cre/Esr1*)1Jmk/A1cf^+	involves: 129S6/SvEvTac * C57BL/6J * FVB/N	MGI:3580162
cx3	Cdh11^tm1Mta/Cdh11^tm1Mta Cdh2^tm1Hyn/Cdh2^tm1Hyn	involves: 129S1/Sv * 129S2/SvPas * C57BL/6	MGI:2662271

Genotype
MGI:2170969

hm1

• Allelic Composition: Cdh2^tm1Hyn/Cdh2^tm1Hyn
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:37888 )

• mutant embryos die by E10

embryo

abnormal vitelline vasculature morphology ( J:37888 )

• blood vessels in the yolk sac are not appropriately formed

abnormal embryo turning ( J:37888 )

• rarely turn completely from the lordotic to the fetal position

embryonic growth retardation ( J:37888 )

• significantly delayed by E9.5 and are equivalent in size to normal E9 embryos

wavy neural tube ( J:37888 )

• undulation of the neural tube

abnormal somite shape ( J:37888 , J:58409 )

• at E8.5, somites are small, irregularly shaped, and less cohesive (J:37888)

• at E9.0, epithelial somites are smaller and irregular in size and shape (J:58409)

• epithelial somites are cleaved into rostral and caudal halves immediately after somite formation (J:58409)

• however, most of these fragmented somites maintain epithelial, vesicle-like structures (J:58409)

abnormal visceral yolk sac morphology ( J:37888 )

• exhibit separation of the mesodermal and endodermal cell layers of the yolk sac; however, points of contact are still maintained between the two cell layers

cardiovascular system

abnormal vitelline vasculature morphology ( J:37888 )

• blood vessels in the yolk sac are not appropriately formed

abnormal myocardium layer morphology ( J:37888 )

• cardiac myoocytes surround the endocardium and are unable to develop a normal myocardium

abnormal myocardial fiber morphology ( J:37888 )

• cardiac myocytes tend to disaggregate

abnormal heart tube morphology ( J:37888 )

• all embryos examined between E9 and E10 exhibit a malformed heart tube

• myocytes dissociated from heart tubes form loose aggregates that contract weakly in vitro compared to strong beating aggregates in wild-type

enlarged heart ( J:37888 )

• seen as early as E8.5

distended pericardium ( J:37888 )

• expanded pericardial cavity occupies much of the amniotic cavity

growth/size/body

enlarged heart ( J:37888 )

• seen as early as E8.5

embryonic growth retardation ( J:37888 )

• significantly delayed by E9.5 and are equivalent in size to normal E9 embryos

nervous system

wavy neural tube ( J:37888 )

• undulation of the neural tube

muscle

abnormal myocardium layer morphology ( J:37888 )

• cardiac myoocytes surround the endocardium and are unable to develop a normal myocardium

abnormal myocardial fiber morphology ( J:37888 )

• cardiac myocytes tend to disaggregate

Genotype
MGI:3580162

cn2

• Allelic Composition: Cdh2^tm1Glr/Cdh2^tm1Hyn; A1cf^{Tg(Myh6-cre/Esr1*)1Jmk}/A1cf⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

mortality/aging

premature death ( J:98828 )

• mutants die about 2 months after tamoxifen treatment

cardiovascular system

abnormal cardiovascular system morphology ( J:98828 )

abnormal myocardial fiber morphology ( J:98828 )

• after tamoxifen treatment enlarged hyperchromatic myocyte nuclei are seen

• after tamoxifen treatment intercalated disc structures and intercellular space are absent

• after tamoxifen treatment sarcomeres appear distorted and compressed with wider, less dense Z-lines

abnormal intercalated disk morphology ( J:98828 )

• after tamoxifen treatment intercalated disc structures are absent

dilated heart atrium ( J:98828 )

• modest dilation of the atria after tamoxifen treatment

abnormal heart shape ( J:98828 )

• after tamoxifen treatment hearts appear elongated and flacid

dilated heart left ventricle ( J:98828 )

• modest dilation of the ventricles after tamoxifen treatment

dilated heart right ventricle ( J:98828 )

• modest dilation of the ventricles after tamoxifen treatment

abnormal cardiovascular system physiology ( J:98828 )

decreased cardiac output ( J:98828 )

decreased heart left ventricle muscle contractility ( J:98828 )

• eft ventricular end-diastolic and end-systolic volume in the cavity are increased and left ventricular ejection fraction is decreased

decreased heart rate ( J:98828 )

• about 5 weeks after tamoxifen treatment, mutant heart rate is significantly reduced

increased heart rate ( J:98828 )

• about 6 weeks after tamoxifen treatment, 2 mutants showed abrupt onset of ventricular tachyarrhythmia followed by sudden death

irregular heartbeat ( J:98828 )

• about 6 weeks after tamoxifen treatment, 2 mutants showed abrupt onset of ventricular tachyarrhythmia followed by sudden death

abnormal impulse conducting system conduction ( J:98828 )

• tachyarrhythmia is initiated by premature ventricular depolarization

muscle

abnormal myocardial fiber morphology ( J:98828 )

• after tamoxifen treatment enlarged hyperchromatic myocyte nuclei are seen

• after tamoxifen treatment intercalated disc structures and intercellular space are absent

• after tamoxifen treatment sarcomeres appear distorted and compressed with wider, less dense Z-lines

abnormal intercalated disk morphology ( J:98828 )

• after tamoxifen treatment intercalated disc structures are absent

decreased heart left ventricle muscle contractility ( J:98828 )

• eft ventricular end-diastolic and end-systolic volume in the cavity are increased and left ventricular ejection fraction is decreased

Genotype
MGI:2662271

cx3

• Allelic Composition: Cdh11^tm1Mta/Cdh11^tm1Mta; Cdh2^tm1Hyn/Cdh2^tm1Hyn
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6

embryo

incomplete somite formation ( J:58409 )

• at E9.0, double mutant embryos display a more severe disorganization and fragmentation of the epithelial somites than single Cdh2^tm1Hyn embryos

• each epithelial somite is cleaved into rostral and caudal halves just after somite formation, as in single Cdh2^tm1Hyn embryos; however, in double mutant embryos, each half is further fragmented into smaller clusters, and the caudal and rostral compartments tend to separate from each other