Phenotypes associated with this allele

• Allele Symbol: Esrp1^tm1.1Rpc
• Allele Name: targeted mutation 1.1, Russ P Carstens
• Allele ID: MGI:5707241
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Esrp1^tm1.1Rpc/Esrp1^tm1.1Rpc Tg(Tcfap2a-cre)1Will/0	involves: 129S4/SvJae * C57BL/6	MGI:7437689
cn2	Esrp1^tm1.1Rpc/Esrp1^tm1.1Rpc Esrp2^tm1(KOMP)Vlcg/Esrp2^tm1(KOMP)Vlcg Tg(KRT14-cre)43Smr/0	involves: 129S4/SvJae * C57BL/6 * C57BL/6J * C57BL/6NTac * SJL/J	MGI:5707288

Genotype
MGI:7437689

cn1

• Allelic Composition: Esrp1^tm1.1Rpc/Esrp1^tm1.1Rpc; Tg(Tcfap2a-cre)1Will/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

craniofacial

small premaxilla ( J:293624 )

• underdeveloped with a poor connection to the maxilla and extend out in front of the face

bilateral cleft upper lip ( J:293624 )

• bilateral cleft lip/palate at E18.5

• failure of the lip processes to come together to form a midline philtrum

abnormal palate morphology ( J:293624 )

maxillary shelf hypoplasia ( J:293624 )

• similar to palatine bones

palatine bone hypoplasia ( J:293624 )

• hypoplastic and located to the side

cleft primary palate ( J:293624 )

• bilateral cleft of the primary palate at E18.5

cleft secondary palate ( J:293624 )

• complete cleft

bilateral cleft palate ( J:293624 )

• bilateral cleft lip/palate at E18.5

skeleton

maxillary shelf hypoplasia ( J:293624 )

• similar to palatine bones

small premaxilla ( J:293624 )

• underdeveloped with a poor connection to the maxilla and extend out in front of the face

palatine bone hypoplasia ( J:293624 )

• hypoplastic and located to the side

digestive/alimentary system

abnormal palate morphology ( J:293624 )

maxillary shelf hypoplasia ( J:293624 )

• similar to palatine bones

palatine bone hypoplasia ( J:293624 )

• hypoplastic and located to the side

cleft primary palate ( J:293624 )

• bilateral cleft of the primary palate at E18.5

cleft secondary palate ( J:293624 )

• complete cleft

bilateral cleft palate ( J:293624 )

• bilateral cleft lip/palate at E18.5

growth/size/body

small premaxilla ( J:293624 )

• underdeveloped with a poor connection to the maxilla and extend out in front of the face

bilateral cleft upper lip ( J:293624 )

• bilateral cleft lip/palate at E18.5

• failure of the lip processes to come together to form a midline philtrum

abnormal palate morphology ( J:293624 )

maxillary shelf hypoplasia ( J:293624 )

• similar to palatine bones

palatine bone hypoplasia ( J:293624 )

• hypoplastic and located to the side

cleft primary palate ( J:293624 )

• bilateral cleft of the primary palate at E18.5

cleft secondary palate ( J:293624 )

• complete cleft

bilateral cleft palate ( J:293624 )

• bilateral cleft lip/palate at E18.5

Genotype
MGI:5707288

cn2

• Allelic Composition: Esrp1^tm1.1Rpc/Esrp1^tm1.1Rpc; Esrp2^{tm1(KOMP)Vlcg}/Esrp2^{tm1(KOMP)Vlcg}; Tg(KRT14-cre)43Smr/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/6J * C57BL/6NTac * SJL/J
• Cell Lines: 13762A-G3

mortality/aging

postnatal lethality, complete penetrance ( J:226997 )

• neonates are viable at birth (P0.5) however pups do not survive to the following day (P1.5)

integument

impaired skin barrier function ( J:226997 )

• in a water loss assay, mutant pups lose more weight compared to controls, indicating a skin barrier defect

dry skin ( J:226997 )

shiny skin ( J:226997 )

• red shiny skin

homeostasis/metabolism

impaired skin barrier function ( J:226997 )

• in a water loss assay, mutant pups lose more weight compared to controls, indicating a skin barrier defect