Phenotypes associated with this allele

• Allele Symbol: Esrp2^{tm1(KOMP)Vlcg}
• Allele Name: targeted mutation 1, Velocigene
• Allele ID: MGI:4399676
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Esrp2^tm1(KOMP)Vlcg/Esrp2^tm1(KOMP)Vlcg	involves: C57BL/6J * C57BL/6NTac	MGI:5707197
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
cx3	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
cx4	Esrp1^tm1.2Rpc/Esrp1^tm1.2Rpc Esrp2^tm1(KOMP)Vlcg/Esrp2^+	involves: 129S4/SvJae * C57BL/6 * C57BL/6J * C57BL/6NTac	MGI:5707286

Genotype
MGI:5707197

hm1

• Allelic Composition: Esrp2^{tm1(KOMP)Vlcg}/Esrp2^{tm1(KOMP)Vlcg}
• Genetic Background: involves: C57BL/6J * C57BL/6NTac
• Cell Lines: 13762A-G3

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

liver/biliary system

increased hepatocyte proliferation ( J:228040 )

abnormal liver morphology ( J:228040 )

• decrease in hepatic albumin levels

• however, mice do not exhibit any major signs of liver injury or changes in apoptosis

abnormal liver development ( J:228040 )

• mice show persistent expression of fetal genes and loss of mature hepatocyte markers

• marker analysis indicates hepatic zonation abnormalities

abnormal hepatocyte morphology ( J:228040 )

• increase in the number of diploid and tetraploid hepatocytes that are smaller in size compared to controls

cellular

increased hepatocyte proliferation ( J:228040 )

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:228040 )

N • mice do not exhibit any changes alanine aminotransferase, aspartate aminotransferase, cholesterol, triglyceride, or random and fasting glucose levels

abnormal protein level ( J:228040 )

• decrease in total serum protein levels

decreased circulating serum albumin level ( J:228040 )

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

Genotype
MGI:5707269

cx3

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

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

Genotype
MGI:5707286

cx4

• 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

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 )