All Phenotypes Ywhae<tm1Awb> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ywhae^tm1Awb/Ywhae^tm1Awb	either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * NIH Black Swiss)	MGI:2670755
hm2	Ywhae^tm1Awb/Ywhae^tm1Awb	involves: 129S6/SvEvTac	MGI:5512772
ht3	Ywhae^tm1Awb/Ywhae⁺	involves: 129S6/SvEvTac	MGI:5512850
cx4	Pafah1b1^tm1Awb/Pafah1b1⁺ Ywhae^tm1Awb/Ywhae⁺	either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * NIH Black Swiss)	MGI:2670767

Allelic Composition	Ywhae^tm1Awb/Ywhae^tm1Awb
Genetic Background	either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * NIH Black Swiss)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ywhae^tm1Awb mutation (1 available); any Ywhae mutation (63 available)

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:84075 )

• most homozygotes died at birth

• 2.5% on mixed background survived

• 1% on inbred background survived

• survivors small but otherwise normal

nervous system

abnormal neuronal migration ( J:84075 )

• neuronal migration distances for brain neurons are shorter than in wild-type

abnormal brain morphology ( J:84075 )

• increased apoptosis

• ventricular zone proliferation is normal

abnormal hippocampus pyramidal cell layer ( J:84075 )

• pyramidal cell layer is disorganized and less cellular

abnormal cerebral cortex morphology ( J:84075 )

• cortex is thinner than normal

cellular

abnormal neuronal migration ( J:84075 )

• neuronal migration distances for brain neurons are shorter than in wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Miller-Dieker lissencephaly syndrome		DOID:0060469	OMIM:247200	J:84075

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

mortality/aging

perinatal lethality, complete penetrance ( J:192860 )

• die within 6 to 9 hours of birth

homeostasis/metabolism

cyanosis ( J:192860 )

• newborns exhibit cyanosis

cardiovascular system

abnormal heart morphology ( J:192860 )

• increase in heart cavity diameter

abnormal myocardial trabeculae morphology ( J:192860 )

• hearts display deep intertrabecular recesses

thin myocardium compact layer ( J:192860 )

• thinner compact myocardium at E12.5, with few cell layers forming the ventricular wall

abnormal heart ventricle morphology ( J:192860 )

• thinner ventricles at E12.5

thin ventricle myocardium compact layer ( J:192860 )

• E12.5 mutants exhibit a reduction in ventricular compact myocardium thickness indicating ventricular non-compaction

ventricular septal defect ( J:192860 )

• 60% of mutants exhibit ventricular septal defects at E18.5

thin ventricular wall ( J:192860 )

• thin biventricular walls at E18.5

dilated heart ventricle ( J:192860 )

• biventricular dilatation in E18.5 hearts

abnormal fetal cardiomyocyte physiology ( J:192860 )

• embryonic cardiomyocytes display cell cycle defects characterized by a reduced number in G2/M and an accumulation in the G0/G1 phase

decreased fetal cardiomyocyte proliferation ( J:192860 )

• proliferation is decreased in E12.5 hearts and the mitotic index is 47% lower in whole hearts

• mitotic index is lower in the ventricles but not in the septum

• proliferation in the compact zone of the left ventricle is decreased

cellular

decreased fetal cardiomyocyte proliferation ( J:192860 )

• proliferation is decreased in E12.5 hearts and the mitotic index is 47% lower in whole hearts

• mitotic index is lower in the ventricles but not in the septum

• proliferation in the compact zone of the left ventricle is decreased

abnormal cell cycle ( J:192860 )

• embryonic cardiomyocytes display cell cycle defects characterized by a reduced number in G2/M and an accumulation in the G0/G1 phase

decreased mitotic index ( J:192860 )

• mitotic index in whole hearts is 47% lower than in controls and is also lower in the ventricles but not in the septum

muscle

abnormal myocardial trabeculae morphology ( J:192860 )

• hearts display deep intertrabecular recesses

thin myocardium compact layer ( J:192860 )

• thinner compact myocardium at E12.5, with few cell layers forming the ventricular wall

thin ventricle myocardium compact layer ( J:192860 )

• E12.5 mutants exhibit a reduction in ventricular compact myocardium thickness indicating ventricular non-compaction

decreased fetal cardiomyocyte proliferation ( J:192860 )

• proliferation is decreased in E12.5 hearts and the mitotic index is 47% lower in whole hearts

• mitotic index is lower in the ventricles but not in the septum

• proliferation in the compact zone of the left ventricle is decreased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
left ventricular noncompaction		DOID:0060480	OMIM:604169	J:192860

Allelic Composition	Ywhae^tm1Awb/Ywhae⁺
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ywhae^tm1Awb mutation (1 available); any Ywhae mutation (63 available)

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

cardiovascular system

thin ventricle myocardium compact layer ( J:192860 )

ventricular septal defect ( J:192860 )

• 20% of mutants exhibit ventricular septal defects at E14.5, but only 7% of mutants at E18.5, suggesting delayed maturation of the interventricular septum

abnormal heart left ventricle morphology ( J:192860 )

• thinner left ventricle

reproductive system

decreased litter size ( J:192860 )

• heterozygous females have small litters

muscle

thin ventricle myocardium compact layer ( J:192860 )

Allelic Composition	Pafah1b1^tm1Awb/Pafah1b1⁺ Ywhae^tm1Awb/Ywhae⁺
Genetic Background	either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * NIH Black Swiss)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pafah1b1^tm1Awb mutation (0 available); any Pafah1b1 mutation (159 available)
Ywhae^tm1Awb mutation (1 available); any Ywhae mutation (63 available)

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

nervous system

abnormal neuronal migration ( J:84075 )

• neuronal migration distances in the cortex and in the hippocampus are shorter than in mice heterozygous for only one of these two loci

abnormal brain morphology ( J:84075 )

abnormal hippocampus morphology ( J:84075 )

• very severe abnormalities in pyramidal cell packing as compared to mice heterozygous at only one of these two loci

cellular

abnormal neuronal migration ( J:84075 )

• neuronal migration distances in the cortex and in the hippocampus are shorter than in mice heterozygous for only one of these two loci

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
lissencephaly	DOID:0050453	OMIM:PS607432	J:84075
Miller-Dieker lissencephaly syndrome	DOID:0060469	OMIM:247200	J:84075

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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