All Phenotypes Kdm6a<tm1c(EUCOMM)Wtsi> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Kdm6a^{tm1c(EUCOMM)Wtsi}
targeted mutation 1c, Wellcome Trust Sanger Institute
MGI:5516010

Summary

6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kdm6a^{tm1c(EUCOMM)Wtsi}/Kdm6a^{tm1c(EUCOMM)Wtsi}	either: (involves: C57BL/6 * CD-1) or (involves: 129 * C57BL/6 * CD-1)	MGI:5516065
cn2	Kdm6a^{tm1c(EUCOMM)Wtsi}/Kdm6a^{tm1c(EUCOMM)Wtsi} Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺	either: (involves: C57BL/6 * CBA * CD-1) or (involves: 129 * C57BL/6 * CBA * CD-1)	MGI:5516066
cn3	Kdm6a^{tm1c(EUCOMM)Wtsi}/Y Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺	either: (involves: C57BL/6 * CBA * CD-1) or (involves: 129 * C57BL/6 * CBA * CD-1)	MGI:5516067
cn4	Kdm6a^{tm1c(EUCOMM)Wtsi}/Kdm6a^{tm1c(EUCOMM)Wtsi} H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: C57BL/6J * C57BL/6N * CBA	MGI:7333177
cn5	Kdm6a^{tm1c(EUCOMM)Wtsi}/Y H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: C57BL/6J * C57BL/6N * CBA	MGI:7333176
ot6	Kdm6a^{tm1c(EUCOMM)Wtsi}/Y	either: (involves: C57BL/6 * CD-1) or (involves: 129 * C57BL/6 * CD-1)	MGI:5516064

Allelic Composition	Kdm6a^{tm1c(EUCOMM)Wtsi}/Kdm6a^{tm1c(EUCOMM)Wtsi}
Genetic Background	either: (involves: C57BL/6 * CD-1) or (involves: 129 * C57BL/6 * CD-1)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kdm6a^{tm1c(EUCOMM)Wtsi} mutation (1 available); any Kdm6a mutation (40 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:201868 )

• some survival to E12.5

nervous system

open neural tube ( J:201868 )

• in about half of embryos

embryo

open neural tube ( J:201868 )

• in about half of embryos

Allelic Composition	Kdm6a^{tm1c(EUCOMM)Wtsi}/Kdm6a^{tm1c(EUCOMM)Wtsi} Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
Genetic Background	either: (involves: C57BL/6 * CBA * CD-1) or (involves: 129 * C57BL/6 * CBA * CD-1)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Edil3^{Tg(Sox2-cre)1Amc} mutation (5 available); any Edil3 mutation (43 available)
Kdm6a^{tm1c(EUCOMM)Wtsi} mutation (1 available); any Kdm6a mutation (40 available)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:201868 )

• no females recovered at E18.5

Allelic Composition	Kdm6a^{tm1c(EUCOMM)Wtsi}/Y Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
Genetic Background	either: (involves: C57BL/6 * CBA * CD-1) or (involves: 129 * C57BL/6 * CBA * CD-1)

Find Mice

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

mortality/aging

mortality/aging ( J:201868 )

N	• males recovered at expected frequencies at E18.5

Allelic Composition	Kdm6a^{tm1c(EUCOMM)Wtsi}/Kdm6a^{tm1c(EUCOMM)Wtsi} H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Genetic Background	involves: C57BL/6J * C57BL/6N * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (27 available)
Kdm6a^{tm1c(EUCOMM)Wtsi} mutation (1 available); any Kdm6a mutation (40 available)

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

craniofacial

cleft palate ( J:294895 )

• partially penetrant

cleft hard palate ( J:294895 )

• in some cases the palatine bone fails to fuse at the midline

embryo

abnormal cranial neural crest cell morphology ( J:294895 )

• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation

digestive/alimentary system

cleft palate ( J:294895 )

• partially penetrant

cleft hard palate ( J:294895 )

• in some cases the palatine bone fails to fuse at the midline

nervous system

abnormal cranial neural crest cell morphology ( J:294895 )

• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation

growth/size/body

cleft palate ( J:294895 )

• partially penetrant

cleft hard palate ( J:294895 )

• in some cases the palatine bone fails to fuse at the midline

Allelic Composition	Kdm6a^{tm1c(EUCOMM)Wtsi}/Y H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Genetic Background	involves: C57BL/6J * C57BL/6N * CBA

Find Mice

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

craniofacial

cleft palate ( J:294895 )

• partially penetrant

cleft hard palate ( J:294895 )

• in some cases the palatine bone fails to fuse at the midline

embryo

abnormal cranial neural crest cell morphology ( J:294895 )

• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation

digestive/alimentary system

cleft palate ( J:294895 )

• partially penetrant

cleft hard palate ( J:294895 )

• in some cases the palatine bone fails to fuse at the midline

nervous system

abnormal cranial neural crest cell morphology ( J:294895 )

• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation

growth/size/body

cleft palate ( J:294895 )

• partially penetrant

cleft hard palate ( J:294895 )

• in some cases the palatine bone fails to fuse at the midline

Allelic Composition	Kdm6a^{tm1c(EUCOMM)Wtsi}/Y
Genetic Background	either: (involves: C57BL/6 * CD-1) or (involves: 129 * C57BL/6 * CD-1)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kdm6a^{tm1c(EUCOMM)Wtsi} mutation (1 available); any Kdm6a mutation (40 available)

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:201868 )

• hemizygous males are reduced 55% from expected numbers

• numbers at E18.5 were as expected

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