Phenotypes associated with this allele

• Allele Symbol: Ctnnd1^tm1Abre
• Allele Name: targeted mutation 1, Albert B Reynolds
• Allele ID: MGI:3617486
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ctnnd1^tm1Abre/Ctnnd1^tm1Abre	involves: 129S6/SvEvTac	MGI:3826504
cn2	Ctnnd1^tm1Abre/Ctnnd1^+ Tg(Tcfap2a-cre)1Will/0	involves: 129S6/SvEvTac	MGI:7345551
cn3	Ctnnd1^tm1Abre/Ctnnd1^tm1Abre Tg(KRT14-cre)1Efu/?	involves: 129S6/SvEvTac	MGI:3826503
cn4	Ctnnd1^tm1Abre/Ctnnd1^tm1Abre Tg(Tcfap2a-cre)1Will/0	involves: 129S6/SvEvTac	MGI:7345550
cn5	Ctnnd1^tm1Abre/Ctnnd1^tm1Abre Tg(MMTV-cre)FMam/0	involves: 129S6/SvEvTac * Black Swiss * C57BL/6 * FVB/N	MGI:3618361

Genotype
MGI:3826504

hm1

• Allelic Composition: Ctnnd1^tm1Abre/Ctnnd1^tm1Abre
• Genetic Background: involves: 129S6/SvEvTac

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

cellular

binucleate ( J:143096 )

• primary keratinocytes transiently expressing cre become binucleated due to defects in the mitotic cycle

• many calls take 4 hours to finish mitosis compared to 30 minutes for control

abnormal mitosis ( J:143096 )

• primary keratinocytes transiently expressing cre often display lagging chromosomes or chromosome bridges

abnormal mitotic spindle morphology ( J:143096 )

• cells display a diverse array of abnormal spindle types

decreased cell proliferation ( J:143096 )

• primary keratinocytes transiently expressing cre have decreased proliferation compared to controls

Genotype
MGI:7345551

cn2

• Allelic Composition: Ctnnd1^tm1Abre/Ctnnd1⁺; Tg(Tcfap2a-cre)1Will/0
• Genetic Background: involves: 129S6/SvEvTac

craniofacial

abnormal maxillary prominence morphology ( J:268949 )

• at E11.5, a delay in the medial growth of the maxillary prominences is observed

• however, no overt clefts are identified

Genotype
MGI:3826503

cn3

• Allelic Composition: Ctnnd1^tm1Abre/Ctnnd1^tm1Abre; Tg(KRT14-cre)1Efu/?
• Genetic Background: involves: 129S6/SvEvTac

neoplasm

increased skin tumor incidence ( J:143096 )

• mice die of an inflammatory skin disease by day 15 so to study effects of the alleles on skin cancer, new born back skin was grafted onto immunocompromised nude mice

• within 15 to 50 days after engraftment, 100% of grafts display signs of epidermal hyperkeratosis compared with their wild-type counterparts

• 50 days after engraftment, grafts develop raised nodules that soon began to ulcerate and adopt an erythematous crateriform appearance

• epithelial undulations with eosinophilic keratinized debris accompany the papilloma-like protuberances 50 days post engraftment

• by 70 days, dysplastic keratinocytes had populated the invaginations

• aberrant clusters of pigment-filled melanocytes, typically confined to skin epithelium, are frequent in the dermis after 70 days

cellular

binucleate ( J:143096 )

• binucleated cells are observed in newborn skin that is grafted onto nude mice

• these cells are often observed in differentiating layers

integument

retarded hair growth ( J:143096 )

• new born back skin grafted onto immunocompromised nude mice have a paucity of hair due to the development of skin tumors

epidermal hyperplasia ( J:143096 )

• there is an enhancement of actively cycling cells in new born back skin grafted onto immunocompromised nude mice

• this hyperproliferation is dependent on surrounding inflammation and will normalize under anti-inflammatory treatment

increased skin tumor incidence ( J:143096 )

• mice die of an inflammatory skin disease by day 15 so to study effects of the alleles on skin cancer, new born back skin was grafted onto immunocompromised nude mice

• within 15 to 50 days after engraftment, 100% of grafts display signs of epidermal hyperkeratosis compared with their wild-type counterparts

• 50 days after engraftment, grafts develop raised nodules that soon began to ulcerate and adopt an erythematous crateriform appearance

• epithelial undulations with eosinophilic keratinized debris accompany the papilloma-like protuberances 50 days post engraftment

• by 70 days, dysplastic keratinocytes had populated the invaginations

• aberrant clusters of pigment-filled melanocytes, typically confined to skin epithelium, are frequent in the dermis after 70 days

Genotype
MGI:7345550

cn4

• Allelic Composition: Ctnnd1^tm1Abre/Ctnnd1^tm1Abre; Tg(Tcfap2a-cre)1Will/0
• Genetic Background: involves: 129S6/SvEvTac

craniofacial

abnormal maxillary prominence morphology ( J:268949 )

• at E11.5, some non-cleft presenting embryos show a delay in the medial growth of the maxillary prominences

facial asymmetry ( J:268949 )

• approximately half of the non-cleft presenting embryos show obvious nasal airway asymmetry

oral cleft ( J:268949 )

• at E10.5-E18.5, ~47% of embryos exhibit a spectrum of overt clefts including: unilateral cleft lip only; unilateral cleft lip and cleft palate; bilateral cleft lip and cleft palate; or cleft secondary palate only

cleft upper lip ( J:268949 )

• unilateral cleft lip only, unilateral cleft lip and cleft palate, and bilateral cleft lip and cleft palate are observed

cleft palate ( J:268949 )

• unilateral cleft lip and cleft palate as well as bilateral cleft lip and cleft palate are observed

cleft secondary palate ( J:268949 )

• cleft secondary palate only is also observed

bilateral cleft palate ( J:268949 )

unilateral cleft palate ( J:268949 )

abnormal external nares morphology ( J:268949 )

• non-cleft presenting embryos exhibit dysmorphic nares

abnormal nasal tip morphology ( J:268949 )

• non-cleft presenting embryos exhibit dysmorphic nasal tips

growth/size/body

facial asymmetry ( J:268949 )

• approximately half of the non-cleft presenting embryos show obvious nasal airway asymmetry

oral cleft ( J:268949 )

• at E10.5-E18.5, ~47% of embryos exhibit a spectrum of overt clefts including: unilateral cleft lip only; unilateral cleft lip and cleft palate; bilateral cleft lip and cleft palate; or cleft secondary palate only

cleft upper lip ( J:268949 )

• unilateral cleft lip only, unilateral cleft lip and cleft palate, and bilateral cleft lip and cleft palate are observed

cleft palate ( J:268949 )

• unilateral cleft lip and cleft palate as well as bilateral cleft lip and cleft palate are observed

cleft secondary palate ( J:268949 )

• cleft secondary palate only is also observed

bilateral cleft palate ( J:268949 )

unilateral cleft palate ( J:268949 )

abnormal external nares morphology ( J:268949 )

• non-cleft presenting embryos exhibit dysmorphic nares

abnormal nasal tip morphology ( J:268949 )

• non-cleft presenting embryos exhibit dysmorphic nasal tips

digestive/alimentary system

cleft palate ( J:268949 )

• unilateral cleft lip and cleft palate as well as bilateral cleft lip and cleft palate are observed

cleft secondary palate ( J:268949 )

• cleft secondary palate only is also observed

bilateral cleft palate ( J:268949 )

unilateral cleft palate ( J:268949 )

respiratory system

abnormal external nares morphology ( J:268949 )

• non-cleft presenting embryos exhibit dysmorphic nares

abnormal nasal tip morphology ( J:268949 )

• non-cleft presenting embryos exhibit dysmorphic nasal tips

Genotype
MGI:3618361

cn5

• Allelic Composition: Ctnnd1^tm1Abre/Ctnnd1^tm1Abre; Tg(MMTV-cre)FMam/0
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss * C57BL/6 * FVB/N

mortality/aging

postnatal lethality, complete penetrance ( J:105283 )

• death occurs shortly after birth

digestive/alimentary system

abnormal major salivary gland morphology ( J:105283 )

• complete loss of exocrine acini in both the submandibular and sublingual glands

• both glands composed entirely of misshapen ducts

• foci present in which the epithelial structure of the ducts is completely disrupted

• foci expand from E14 to birth with all ducts eventually becoming occluded by large epithelial masses protruding into the lumen

• tube morphogenesis defective

abnormal sublingual gland morphology ( J:105283 )

abnormal submandibular gland morphology ( J:105283 )

abnormal submandibular gland physiology ( J:105283 )

• proliferating epithelial cells persist

increased submandibular gland apoptosis ( J:105283 )

• rates of apoptosis as much as 10X greater than controls

vision/eye

abnormal lacrimal gland morphology ( J:105283 )

• epithelia lack a prominent basal lamina

• collapsed lumina

• loss of cells and nuclear polarity

• cells with vacuolated cytoplasm

• poor cell-cell adhesion

endocrine/exocrine glands

abnormal major salivary gland morphology ( J:105283 )

• complete loss of exocrine acini in both the submandibular and sublingual glands

• both glands composed entirely of misshapen ducts

• foci present in which the epithelial structure of the ducts is completely disrupted

• foci expand from E14 to birth with all ducts eventually becoming occluded by large epithelial masses protruding into the lumen

• tube morphogenesis defective

abnormal sublingual gland morphology ( J:105283 )

abnormal submandibular gland morphology ( J:105283 )

abnormal submandibular gland physiology ( J:105283 )

• proliferating epithelial cells persist

increased submandibular gland apoptosis ( J:105283 )

• rates of apoptosis as much as 10X greater than controls

abnormal lacrimal gland morphology ( J:105283 )

• epithelia lack a prominent basal lamina

• collapsed lumina

• loss of cells and nuclear polarity

• cells with vacuolated cytoplasm

• poor cell-cell adhesion

cellular

increased submandibular gland apoptosis ( J:105283 )

• rates of apoptosis as much as 10X greater than controls