Phenotypes associated with this allele

• Allele Symbol: Dph1^tm1.1Cmch
• Allele Name: targeted mutation 1.1, Chun-Ming Chen
• Allele ID: MGI:5648733
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Dph1^tm1.1Cmch/Dph1^tm1.1Cmch Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * CBA	MGI:5659970
cn2	Dph1^tm1.1Cmch/Dph1^tm1.1Cmch Mesp1^tm2(cre)Ysa/Mesp1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj	MGI:5659972
cn3	Dph1^tm1.1Cmch/Dph1^tm1.1Cmch H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:5659973
cn4	Dph1^tm1.1Cmch/Dph1^tm1.1Cmch Gt(ROSA)26Sor^tm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:5659974

Genotype
MGI:5659970

cn1

• Allelic Composition: Dph1^tm1.1Cmch/Dph1^tm1.1Cmch; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * CBA

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

mortality/aging

neonatal lethality, complete penetrance ( J:214744 )

• die shortly after birth

craniofacial

small cranium ( J:214744 )

mandible hypoplasia ( J:214744 )

• underdeveloped mandible

short mandible ( J:214744 )

• in newborns

absent palatine bone ( J:214744 )

• in newborns

palatal shelves fail to meet at midline ( J:214744 )

• palatal shelves remain in a vertical position

cleft palate ( J:214744 )

abnormal tongue position ( J:214744 )

• tongue fails to descend

growth/size/body

mandible hypoplasia ( J:214744 )

• underdeveloped mandible

short mandible ( J:214744 )

• in newborns

absent palatine bone ( J:214744 )

• in newborns

palatal shelves fail to meet at midline ( J:214744 )

• palatal shelves remain in a vertical position

cleft palate ( J:214744 )

abnormal tongue position ( J:214744 )

• tongue fails to descend

fetal growth retardation ( J:214744 )

• growth retardation at E14.5

homeostasis/metabolism

edema ( J:214744 )

integument

pallor ( J:214744 )

• pale appearance at E14.5

digestive/alimentary system

palatal shelves fail to meet at midline ( J:214744 )

• palatal shelves remain in a vertical position

cleft palate ( J:214744 )

abnormal tongue position ( J:214744 )

• tongue fails to descend

skeleton

small cranium ( J:214744 )

mandible hypoplasia ( J:214744 )

• underdeveloped mandible

short mandible ( J:214744 )

• in newborns

absent palatine bone ( J:214744 )

• in newborns

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Miller-Dieker lissencephaly syndrome		DOID:0060469	OMIM:247200	J:214744

Genotype
MGI:5659972

cn2

• Allelic Composition: Dph1^tm1.1Cmch/Dph1^tm1.1Cmch; Mesp1^tm2(cre)Ysa/Mesp1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

mortality/aging

postnatal lethality, incomplete penetrance ( J:214744 )

• 14.5% of mice are viable at weaning, indicating partial lethality

craniofacial

craniofacial phenotype ( J:214744 )

N • no overt palatal phenotype is seen at E17.5 and ossification of palatine bones appears normal

Genotype
MGI:5659973

cn3

• Allelic Composition: Dph1^tm1.1Cmch/Dph1^tm1.1Cmch; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

mortality/aging

postnatal lethality, incomplete penetrance ( J:214744 )

• 11.1% mice are viable at weaning, indicating partial lethality

craniofacial

short Meckel's cartilage ( J:214744 )

• length of Meckel's cartilage is shorter

decreased cranium length ( J:214744 )

• skull length is shorter at P0 with an approximate 5% reduction

• skull of surviving adult mice is shorter in length

short mandible ( J:214744 )

• mandible length is shorter in embryos, at P0 and 4 weeks of age

short nasal bone ( J:214744 )

round face ( J:214744 )

• some mice that survive to adulthood exhibit a round facial structure

cleft palate ( J:214744 )

• embryos exhibit a mucous cleft palate with a separation between the palate and the nasal septum at E17.5

• ossified palatine bones with a gap are seen at P0

growth/size/body

short mandible ( J:214744 )

• mandible length is shorter in embryos, at P0 and 4 weeks of age

short nasal bone ( J:214744 )

round face ( J:214744 )

• some mice that survive to adulthood exhibit a round facial structure

cleft palate ( J:214744 )

• embryos exhibit a mucous cleft palate with a separation between the palate and the nasal septum at E17.5

• ossified palatine bones with a gap are seen at P0

digestive/alimentary system

cleft palate ( J:214744 )

• embryos exhibit a mucous cleft palate with a separation between the palate and the nasal septum at E17.5

• ossified palatine bones with a gap are seen at P0

skeleton

short Meckel's cartilage ( J:214744 )

• length of Meckel's cartilage is shorter

decreased cranium length ( J:214744 )

• skull length is shorter at P0 with an approximate 5% reduction

• skull of surviving adult mice is shorter in length

short mandible ( J:214744 )

• mandible length is shorter in embryos, at P0 and 4 weeks of age

short nasal bone ( J:214744 )

respiratory system

short nasal bone ( J:214744 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Miller-Dieker lissencephaly syndrome		DOID:0060469	OMIM:247200	J:214744

Genotype
MGI:5659974

cn4

• Allelic Composition: Dph1^tm1.1Cmch/Dph1^tm1.1Cmch; Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

craniofacial

small nasal bone ( J:214744 )

• areas of nasal bones is reduced by about 20% at P0

skeleton

small nasal bone ( J:214744 )

• areas of nasal bones is reduced by about 20% at P0

growth/size/body

small nasal bone ( J:214744 )

• areas of nasal bones is reduced by about 20% at P0

respiratory system

small nasal bone ( J:214744 )

• areas of nasal bones is reduced by about 20% at P0