All Phenotypes Pafah1b1<tm1Awb> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pafah1b1^tm1Awb
targeted mutation 1, Anthony Wynshaw-Boris
MGI:2384054

Summary

12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pafah1b1^tm1Awb/Pafah1b1^tm1Awb	involves: 129S6/SvEvTac	MGI:5515909
hm2	Pafah1b1^tm1Awb/Pafah1b1^tm1Awb	involves: 129S6/SvEvTac * NIH Black Swiss	MGI:3579566
ht3	Pafah1b1^tm1Awb/Pafah1b1⁺	involves: 129S6/SvEvTac	MGI:3589755
ht4	Pafah1b1^tm1Awb/Pafah1b1⁺	involves: 129S6/SvEvTac * NIH Black Swiss	MGI:3053446
ht5	Pafah1b1^tm1Awb/Pafah1b1^tm2Awb	involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss	MGI:2664093
cx6	Pafah1b1^tm1Awb/Pafah1b1⁺ Ywhae^tm1Awb/Ywhae⁺	either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * NIH Black Swiss)	MGI:2670767
cx7	Nde1^tm1Caw/Nde1^tm1Caw Pafah1b1^tm1Awb/Pafah1b1⁺	involves: 129S4/SvJae * 129S6/SvEvTac	MGI:5515910
cx8	Pafah1b1^tm1Awb/Pafah1b1⁺ Ndel1^tm1.1Shr/Ndel1⁺	involves: 129S6/SvEvTac	MGI:3589752
cx9	Pafah1b1^tm1Awb/Pafah1b1⁺ Pafah1b2^{Gt(Betageo)1Cla}/Pafah1b2^{Gt(Betageo)1Cla} Pafah1b3^tm1Cla/Pafah1b3^tm1Cla	involves: 129S6/SvEvTac	MGI:2669856
cx10	Pafah1b1^tm1Awb/Pafah1b1⁺ Vldlr^tm1Her/Vldlr^tm1Her	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6	MGI:3778083
cx11	Lrp8^tm1Her/Lrp8^tm1Her Pafah1b1^tm1Awb/Pafah1b1⁺	involves: 129S6/SvEvTac * C57BL/6	MGI:3778082
cx12	Brap^tm1.1Yfng/Brap^tm1.1Yfng Pafah1b1^tm1Awb/Pafah1b1⁺	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:5515911

Allelic Composition	Pafah1b1^tm1Awb/Pafah1b1^tm1Awb
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pafah1b1^tm1Awb mutation (0 available); any Pafah1b1 mutation (160 available)

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

mortality/aging

embryonic lethality at implantation, complete penetrance ( J:197131 )

• peri-implantation lethality

Allelic Composition	Pafah1b1^tm1Awb/Pafah1b1^tm1Awb
Genetic Background	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 (160 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:49531 )

• 50% dead prior to E5.5, 50% dead between E5.5 and E9.5

Allelic Composition	Pafah1b1^tm1Awb/Pafah1b1⁺
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pafah1b1^tm1Awb mutation (0 available); any Pafah1b1 mutation (160 available)

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

Disruption of hippocampal layers in Lrp8^tm1Her/Lrp8^tm1Her, Pafah1b1^tm1Awb/Pafah1b1⁺, and Lrp8^tm1Her/Lrp8^tm1Her Pafah1b1^tm1Awb/Pafah1b1⁺ mice

nervous system

increased neuron apoptosis ( J:100552 )

• at E15.5, but not at E11.5, increased apoptosis is seen in the ventricular zone

abnormal neuronal migration ( J:100552 )

• migration defects in the hippocampus are seen

abnormal hippocampus pyramidal cell layer ( J:129338 )

• mutants exhibit a modest split of the pyramidal layer in area CA1 and CA3

• however, do not show an obvious cerebral cortical layering defects

abnormal neocortex morphology ( J:100552 )

• a mild reduction in the number of cells in the neocortex is seen with preferential loss of later migrating cells

cellular

increased neuron apoptosis ( J:100552 )

• at E15.5, but not at E11.5, increased apoptosis is seen in the ventricular zone

abnormal neuronal migration ( J:100552 )

• migration defects in the hippocampus are seen

Allelic Composition	Pafah1b1^tm1Awb/Pafah1b1⁺
Genetic Background	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 (160 available)

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

behavior/neurological

abnormal spatial learning ( J:59817 )

• impaired in Morris water task

limb grasping ( J:59817 )

• abnormal clasping of hind paws on tail and wire suspension tests

impaired coordination ( J:59817 )

• as observed in a rotarod test

nervous system

delayed brain development ( J:49531 )

• neuronal migration slow or delayed

enlarged brain ventricles ( J:49531 )

abnormal hippocampus morphology ( J:49531 )

• disorganized

abnormal stratification in cerebral cortex ( J:49531 )

abnormal olfactory bulb morphology ( J:49531 )

• disorganized

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
lissencephaly	DOID:0050453	OMIM:PS607432	J:49531 , J:59817
Miller-Dieker lissencephaly syndrome	DOID:0060469	OMIM:247200	J:59817 , J:49531

Allelic Composition	Pafah1b1^tm1Awb/Pafah1b1^tm2Awb
Genetic Background	involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pafah1b1^tm1Awb mutation (0 available); any Pafah1b1 mutation (160 available)
Pafah1b1^tm2Awb mutation (1 available); any Pafah1b1 mutation (160 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:49531 )

• all dead by two weeks of age

growth/size/body

decreased body size ( J:49531 )

• runted

nervous system

abnormal dentate gyrus morphology ( J:49531 )

• disorganized

abnormal hippocampus pyramidal cell layer ( J:49531 )

• broad, discontinuous stratum pyrimadale

absent hippocampus stratum oriens ( J:49531 )

• lacked stratum oriens

abnormal stratification in cerebral cortex ( J:49531 )

• no discernible layers

ectopic Purkinje cell ( J:49531 )

• misplaced cells

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
lissencephaly	DOID:0050453	OMIM:PS607432	J:49531
Miller-Dieker lissencephaly syndrome	DOID:0060469	OMIM:247200	J:49531

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 (160 available)
Ywhae^tm1Awb mutation (1 available); any Ywhae mutation (65 available)

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

nervous system

decreased 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

decreased 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

Allelic Composition	Nde1^tm1Caw/Nde1^tm1Caw Pafah1b1^tm1Awb/Pafah1b1⁺
Genetic Background	involves: 129S4/SvJae * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nde1^tm1Caw mutation (1 available); any Nde1 mutation (32 available)
Pafah1b1^tm1Awb mutation (0 available); any Pafah1b1 mutation (160 available)

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

nervous system

nervous system phenotype ( J:197131 )

N	• normal size and shape of dorsal root ganglia

abnormal roof plate morphology ( J:197131 )

• expanded roof plate

• cells continue to divide through E13

choroid plexus hyperplasia ( J:197131 )

• massive expansion of choroid plexus epithelium cells

decreased neuron number ( J:197131 )

• profound loss of neocortical neurons

• extensive loss of neurons in the dorsal spinal cord

abnormal spinal cord morphology ( J:197131 )

abnormal dorsal interneuron morphology ( J:197131 )

• large number of dorsal sensory interneurons are missing

abnormal spinal cord dorsal horn morphology ( J:197131 )

• near complete loss of dorsal sensory interneurons with only modest losses in the ventral spinal cord

• dorsal progenitors are greatly reduced distal to the roof plate

abnormal spinal cord ventral horn morphology ( J:197131 )

• ventral spinal cord patterning and dorsal most domain of the ventral spinal cord are only modestly affected

embryo

abnormal roof plate morphology ( J:197131 )

• expanded roof plate

• cells continue to divide through E13

Allelic Composition	Pafah1b1^tm1Awb/Pafah1b1⁺ Ndel1^tm1.1Shr/Ndel1⁺
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndel1^tm1.1Shr mutation (0 available); any Ndel1 mutation (40 available)
Pafah1b1^tm1Awb mutation (0 available); any Pafah1b1 mutation (160 available)

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

nervous system

increased neuron apoptosis ( J:100552 )

• at E15.5, but not at E11.5, increased apoptosis is seen in the ventricular zone

abnormal neuronal migration ( J:100552 )

• migration defects in the hippocampus are slightly more severe than in Pafah1b1 single heterozygotes with the number of cells the reached layer II now reduced

abnormal telencephalon development ( J:100552 )

• dendritic extensions of postmiotic neurons in the cortical plate are irregular and fragmented

abnormal neocortex morphology ( J:100552 )

• a mild reduction in the number of cells in the neocortex is seen with preferential loss of later migrating cells

cellular

increased neuron apoptosis ( J:100552 )

• at E15.5, but not at E11.5, increased apoptosis is seen in the ventricular zone

abnormal neuronal migration ( J:100552 )

• migration defects in the hippocampus are slightly more severe than in Pafah1b1 single heterozygotes with the number of cells the reached layer II now reduced

Allelic Composition	Pafah1b1^tm1Awb/Pafah1b1⁺ Pafah1b2^{Gt(Betageo)1Cla}/Pafah1b2^{Gt(Betageo)1Cla} Pafah1b3^tm1Cla/Pafah1b3^tm1Cla
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pafah1b1^tm1Awb mutation (0 available); any Pafah1b1 mutation (160 available)
Pafah1b2^{Gt(Betageo)1Cla} mutation (0 available); any Pafah1b2 mutation (20 available)
Pafah1b3^tm1Cla mutation (0 available); any Pafah1b3 mutation (13 available)

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

Testicular phenotypes of mice having various combinations of Pafah1b1^tm1Awb, Pafah1b2^{Gt(Betageo)1Cla} and Pafah1b3^tm1Cla alleles

reproductive system

reproductive system phenotype ( J:83818 )

N	• males are fertile

decreased male germ cell number ( J:83818 )

• some degenerating germ cells are seen

multinucleated giant male germ cells ( J:83818 )

abnormal seminiferous tubule epithelium morphology ( J:83818 )

• occasional multinucleated giant cells are seen in the seminiferous epithelium

decreased testis weight ( J:83818 )

• testis weigh about 20% less than that of control mice

cellular

decreased male germ cell number ( J:83818 )

• some degenerating germ cells are seen

multinucleated giant male germ cells ( J:83818 )

endocrine/exocrine glands

abnormal seminiferous tubule epithelium morphology ( J:83818 )

• occasional multinucleated giant cells are seen in the seminiferous epithelium

decreased testis weight ( J:83818 )

• testis weigh about 20% less than that of control mice

Allelic Composition	Pafah1b1^tm1Awb/Pafah1b1⁺ Vldlr^tm1Her/Vldlr^tm1Her
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pafah1b1^tm1Awb mutation (0 available); any Pafah1b1 mutation (160 available)
Vldlr^tm1Her mutation (1 available); any Vldlr mutation (69 available)

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

nervous system

nervous system phenotype ( J:129338 )

N	• cerebral cortex appears fairly normal

Allelic Composition	Lrp8^tm1Her/Lrp8^tm1Her Pafah1b1^tm1Awb/Pafah1b1⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp8^tm1Her mutation (1 available); any Lrp8 mutation (43 available)
Pafah1b1^tm1Awb mutation (0 available); any Pafah1b1 mutation (160 available)

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

Disruption of hippocampal layers in Lrp8^tm1Her/Lrp8^tm1Her, Pafah1b1^tm1Awb/Pafah1b1⁺, and Lrp8^tm1Her/Lrp8^tm1Her Pafah1b1^tm1Awb/Pafah1b1⁺ mice

nervous system

abnormal hippocampus layer morphology ( J:129338 )

• profound dyslamination of all cellular layers in the hippocampus

• however, no gross abnormalities are seen in the cerebellum

abnormal cerebral cortex morphology ( J:129338 )

• inversion of cortical layers

• cortex shows hypercellularity of layer I

Allelic Composition	Brap^tm1.1Yfng/Brap^tm1.1Yfng Pafah1b1^tm1Awb/Pafah1b1⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brap^tm1.1Yfng mutation (0 available); any Brap mutation (30 available)
Pafah1b1^tm1Awb mutation (0 available); any Pafah1b1 mutation (160 available)

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

mortality/aging

embryonic lethality during organogenesis ( J:197131 )

• lethality around E11.5

growth/size/body

decreased embryo size ( J:197131 )

nervous system

abnormal roof plate morphology ( J:197131 )

• roof plate widening

cellular

abnormal mitosis ( J:197131 )

• less than 60% of neuron progenitors with properly positioned metaphase chromosomes

embryo

decreased embryo size ( J:197131 )

abnormal roof plate morphology ( J:197131 )

• roof plate widening

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