All Phenotypes Esrp1<tm1.2Rpc> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Esrp1^tm1.2Rpc/Esrp1^tm1.2Rpc	involves: 129S4/SvJae * C57BL/6	MGI:7367409
hm2	Esrp1^tm1.2Rpc/Esrp1^tm1.2Rpc	involves: 129S4/SvJae * C57BL/6 * C57BL/6J	MGI:5707248
ht3	Esrp1^m1Btlr/Esrp1^tm1.2Rpc	involves: 129S4/SvJae * C57BL/6 * C57BL/6J	MGI:7437694
cx4	Esrp1^tm1.2Rpc/Esrp1^tm1.2Rpc Esrp2^{tm1(KOMP)Vlcg}/Esrp2^{tm1(KOMP)Vlcg}	involves: 129S4/SvJae * C57BL/6 * C57BL/6J * C57BL/6NTac	MGI:5707269
cx5	Esrp1^tm1.2Rpc/Esrp1^tm1.2Rpc Esrp2^{tm1(KOMP)Vlcg}/Esrp2⁺	involves: 129S4/SvJae * C57BL/6 * C57BL/6J * C57BL/6NTac	MGI:5707286

Allelic Composition	Esrp1^tm1.2Rpc/Esrp1^tm1.2Rpc
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Esrp1^tm1.2Rpc mutation (1 available); any Esrp1 mutation (19 available)

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

craniofacial

maxillary shelf hypoplasia ( J:293624 )

abnormal lateral nasal prominence morphology ( J:293624 )

• decreased cell proliferation resulting in reduced growth towards apposition with the medial nasal prominence at E10.5

• medial and lateral nasal prominence processes either fail to make contact or fail to fuse

abnormal medial nasal prominence morphology ( J:293624 )

• decreased cell proliferation resulting in reduced growth towards apposition with the lateral nasal prominence at E10.5

• medial and lateral nasal prominence processes either fail to make contact or fail to fuse

abnormal nasal pit morphology ( J:293624 )

• enlarged at E12.5

abnormal palatal shelf fusion at midline ( J:293624 )

• in culture when shelves meet dissolution of the medial edge epithelial cells is absent and shelves fail to achieve mesenchymal confluence

palatal shelves fail to meet at midline ( J:293624 )

decreased palatal shelf size ( J:293624 )

• reduced outgrowth of palatal shelves

• shelves show increased fragility and reduced cell proliferation in culture

cleft upper lip ( J:293624 )

• at E12.5 the medial and lateral nasal prominences are smaller resulting in a larger nasal pit

• the maxillary process fails to contact the medial or lateral nasal prominences

cleft palate ( J:293624 )

respiratory system

abnormal nasal pit morphology ( J:293624 )

• enlarged at E12.5

digestive/alimentary system

maxillary shelf hypoplasia ( J:293624 )

abnormal palatal shelf fusion at midline ( J:293624 )

• in culture when shelves meet dissolution of the medial edge epithelial cells is absent and shelves fail to achieve mesenchymal confluence

palatal shelves fail to meet at midline ( J:293624 )

decreased palatal shelf size ( J:293624 )

• reduced outgrowth of palatal shelves

• shelves show increased fragility and reduced cell proliferation in culture

cleft palate ( J:293624 )

growth/size/body

maxillary shelf hypoplasia ( J:293624 )

abnormal palatal shelf fusion at midline ( J:293624 )

• in culture when shelves meet dissolution of the medial edge epithelial cells is absent and shelves fail to achieve mesenchymal confluence

palatal shelves fail to meet at midline ( J:293624 )

decreased palatal shelf size ( J:293624 )

• reduced outgrowth of palatal shelves

• shelves show increased fragility and reduced cell proliferation in culture

cleft upper lip ( J:293624 )

• at E12.5 the medial and lateral nasal prominences are smaller resulting in a larger nasal pit

• the maxillary process fails to contact the medial or lateral nasal prominences

cleft palate ( J:293624 )

skeleton

maxillary shelf hypoplasia ( J:293624 )

Allelic Composition	Esrp1^tm1.2Rpc/Esrp1^tm1.2Rpc
Genetic Background	involves: 129S4/SvJae * C57BL/6 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Esrp1^tm1.2Rpc mutation (1 available); any Esrp1 mutation (19 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:226997 )

• neonatal lethality on P0 most likely due to orofacial clefting

craniofacial

bilateral cleft upper lip ( J:226997 )

• 100% penetrance of bilateral cleft lip and cleft palate

cleft primary palate ( J:226997 )

• clefting of the primary palate is seen at E18.5

cleft hard palate ( J:226997 )

• clefting of the secondary hard palate is seen at E18.5

cleft soft palate ( J:226997 )

• clefting of the secondary soft palate is seen at E18.5

bilateral cleft palate ( J:226997 )

• 100% penetrance of bilateral cleft lip and cleft palate

digestive/alimentary system

cleft primary palate ( J:226997 )

• clefting of the primary palate is seen at E18.5

cleft hard palate ( J:226997 )

• clefting of the secondary hard palate is seen at E18.5

cleft soft palate ( J:226997 )

• clefting of the secondary soft palate is seen at E18.5

bilateral cleft palate ( J:226997 )

• 100% penetrance of bilateral cleft lip and cleft palate

growth/size/body

bilateral cleft upper lip ( J:226997 )

• 100% penetrance of bilateral cleft lip and cleft palate

cleft primary palate ( J:226997 )

• clefting of the primary palate is seen at E18.5

cleft hard palate ( J:226997 )

• clefting of the secondary hard palate is seen at E18.5

cleft soft palate ( J:226997 )

• clefting of the secondary soft palate is seen at E18.5

bilateral cleft palate ( J:226997 )

• 100% penetrance of bilateral cleft lip and cleft palate

limbs/digits/tail

limbs/digits/tail phenotype ( J:226997 )

N	• mice do not exhibit any gross forelimb or hindlimb defects

Allelic Composition	Esrp1^m1Btlr/Esrp1^tm1.2Rpc
Genetic Background	involves: 129S4/SvJae * C57BL/6 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Esrp1^m1Btlr mutation (1 available); any Esrp1 mutation (19 available)
Esrp1^tm1.2Rpc mutation (1 available); any Esrp1 mutation (19 available)

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

craniofacial

cleft secondary palate ( J:293624 )

• cleft of secondary hard and soft palate

• no cleft lip or cleft of the primary palate

digestive/alimentary system

cleft secondary palate ( J:293624 )

• cleft of secondary hard and soft palate

• no cleft lip or cleft of the primary palate

growth/size/body

cleft secondary palate ( J:293624 )

• cleft of secondary hard and soft palate

• no cleft lip or cleft of the primary palate

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

craniofacial

abnormal mandible morphology ( J:226997 )

• mandibular dysplasia, with malformed mandible lacking the normal curvature

absent mandibular coronoid process ( J:226997 )

• mandibles lack the coronoid process

mandible hypoplasia ( J:226997 )

absent premaxilla ( J:226997 )

• absence of the premaxillary bones at E18.5

nasal bone hypoplasia ( J:226997 )

palatal shelf hypoplasia ( J:226997 )

• palatal bone hypoplasia at E18.5

bilateral cleft upper lip ( J:226997 )

• bilateral cleft lip at E18.5

increased mouth width ( J:226997 )

• widened oral opening

cleft palate ( J:226997 )

cleft primary palate ( J:226997 )

• clefting of the primary palate is seen at E18.5

cleft hard palate ( J:226997 )

• clefting of the secondary hard palate is seen at E18.5

cleft soft palate ( J:226997 )

• clefting of the secondary soft palate is seen at E18.5

digestive/alimentary system

palatal shelf hypoplasia ( J:226997 )

• palatal bone hypoplasia at E18.5

cleft palate ( J:226997 )

cleft primary palate ( J:226997 )

• clefting of the primary palate is seen at E18.5

cleft hard palate ( J:226997 )

• clefting of the secondary hard palate is seen at E18.5

cleft soft palate ( J:226997 )

• clefting of the secondary soft palate is seen at E18.5

absent salivary gland ( J:226997 )

• agenesis of the salivary gland at E15.5

embryo

short rostral-caudal axis ( J:226997 )

• profound rostral shortening

endocrine/exocrine glands

absent salivary gland ( J:226997 )

• agenesis of the salivary gland at E15.5

growth/size/body

nasal bone hypoplasia ( J:226997 )

palatal shelf hypoplasia ( J:226997 )

• palatal bone hypoplasia at E18.5

bilateral cleft upper lip ( J:226997 )

• bilateral cleft lip at E18.5

increased mouth width ( J:226997 )

• widened oral opening

cleft palate ( J:226997 )

cleft primary palate ( J:226997 )

• clefting of the primary palate is seen at E18.5

cleft hard palate ( J:226997 )

• clefting of the secondary hard palate is seen at E18.5

cleft soft palate ( J:226997 )

• clefting of the secondary soft palate is seen at E18.5

abnormal fetal growth/weight/body size ( J:226997 )

• about 30% reduction in length at E18.5

integument

abnormal hair follicle development ( J:226997 )

• fetuses exhibit earlier staged hair follicles indicating delayed hair follicle maturation

decreased hair follicle number ( J:226997 )

• reduction in hair follicle number, with about 23% fewer hair follicles at E18.5

abnormal epidermal layer morphology ( J:226997 )

• epidermal hypoplasia in E18.5 fetuses

• marker analysis indicates that the basal keratinocyte layer is less organized than in controls

thin epidermis ( J:226997 )

• epidermal thickness is reduced by 35% at E18.5

thin skin ( J:226997 )

• skin is thin and transparent at E18.5

limbs/digits/tail

syndactyly ( J:226997 )

• E18.5 fetuses show full fusion of the forepaw or partially penetrant forelimb agenesis

abnormal forelimb morphology ( J:226997 )

• malformed forelimbs at E18.5

• E18.5 fetuses show full fusion of the forepaw or partially penetrant forelimb agenesis

absent humerus ( J:226997 )

• forelimb defect is associated with the absence of the radius and humerus bones

absent radius ( J:226997 )

• forelimb defect is associated with the absence of the radius and humerus bones

short limbs ( J:226997 )

• smaller limbs at E18.5

renal/urinary system

small kidney ( J:226997 )

respiratory system

nasal bone hypoplasia ( J:226997 )

absent lungs ( J:226997 )

• agenesis of the lung at E15.5

skeleton

abnormal mandible morphology ( J:226997 )

• mandibular dysplasia, with malformed mandible lacking the normal curvature

absent mandibular coronoid process ( J:226997 )

• mandibles lack the coronoid process

mandible hypoplasia ( J:226997 )

absent premaxilla ( J:226997 )

• absence of the premaxillary bones at E18.5

nasal bone hypoplasia ( J:226997 )

absent humerus ( J:226997 )

• forelimb defect is associated with the absence of the radius and humerus bones

absent radius ( J:226997 )

• forelimb defect is associated with the absence of the radius and humerus bones

Allelic Composition	Esrp1^tm1.2Rpc/Esrp1^tm1.2Rpc Esrp2^{tm1(KOMP)Vlcg}/Esrp2⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6 * C57BL/6J * C57BL/6NTac
Cell Lines	13762A-G3

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Esrp1^tm1.2Rpc mutation (1 available); any Esrp1 mutation (19 available)
Esrp2^{tm1(KOMP)Vlcg} mutation (1 available); any Esrp2 mutation (26 available)

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

craniofacial

abnormal mandible morphology ( J:226997 )

• mandibular dysplasia

mandible hypoplasia ( J:226997 )

bilateral cleft upper lip ( J:226997 )

• bilateral cleft lip at E18.5

cleft palate ( J:226997 )

cleft primary palate ( J:226997 )

• clefting of the primary palate is seen at E18.5

cleft hard palate ( J:226997 )

• clefting of the secondary hard palate is seen at E18.5

cleft soft palate ( J:226997 )

• clefting of the secondary soft palate is seen at E18.5

digestive/alimentary system

cleft palate ( J:226997 )

cleft primary palate ( J:226997 )

• clefting of the primary palate is seen at E18.5

cleft hard palate ( J:226997 )

• clefting of the secondary hard palate is seen at E18.5

cleft soft palate ( J:226997 )

• clefting of the secondary soft palate is seen at E18.5

embryo

short rostral-caudal axis ( J:226997 )

• rostral shortening

growth/size/body

bilateral cleft upper lip ( J:226997 )

• bilateral cleft lip at E18.5

cleft palate ( J:226997 )

cleft primary palate ( J:226997 )

• clefting of the primary palate is seen at E18.5

cleft hard palate ( J:226997 )

• clefting of the secondary hard palate is seen at E18.5

cleft soft palate ( J:226997 )

• clefting of the secondary soft palate is seen at E18.5

abnormal fetal growth/weight/body size ( J:226997 )

• slight length reduction at E18.5

decreased fetal weight ( J:226997 )

• slight weight reduction at E18.5

limbs/digits/tail

syndactyly ( J:226997 )

• embryos often show forepaw syndactyly

abnormal forelimb morphology ( J:226997 )

• embryos often show malformed forelimbs

absent humerus ( J:226997 )

absent radius ( J:226997 )

skeleton

abnormal mandible morphology ( J:226997 )

• mandibular dysplasia

mandible hypoplasia ( J:226997 )

absent humerus ( J:226997 )

absent radius ( J:226997 )

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