Phenotypes associated with this allele

• Allele Symbol: Ctnna1^tm1Efu
• Allele Name: targeted mutation 1, Elaine Fuchs
• Allele ID: MGI:2677796
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ctnna1^tm1Efu/Ctnna1^tm1Efu	involves: 129X1/SvJ	MGI:3830548
cn2	Ctnna1^em1Xjz/Ctnna1^tm1Efu Gt(ROSA)26Sor^tm14(CAG-tdTomato)Hze/Gt(ROSA)26Sor^+ Tg(Pdgfb-icre/ERT2,-EGFP)1Frut/0	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * C57BL/6J * C57BL/6NCrl * CBA	MGI:7467130
cn3	Ctnna1^tm1Efu/Ctnna1^tm1Efu Gt(ROSA)26Sor^tm14(CAG-tdTomato)Hze/Gt(ROSA)26Sor^+ Tg(Pdgfb-icre/ERT2,-EGFP)1Frut/0	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * C57BL/6NCrl * CBA	MGI:7467113
cn4	Ctnna1^tm1Efu/Ctnna1^tm1Efu Twist2^tm1(cre)Dor/Twist2^+	involves: 129X1/SvJ	MGI:5299326
cn5	Ctnna1^tm1Efu/Ctnna1^tm1Efu Tg(KRT14-cre)1Efu/?	involves: 129X1/SvJ	MGI:3720633
cn6	Ctnna1^tm1Efu/Ctnna1^tm1Efu Tg(Wap-cre)11738Mam/?	involves: 129X1/SvJ * C57BL/6 * SJL	MGI:3720651
cn7	Ctnna1^tm1Efu/Ctnna1^tm1Efu Tg(Nes-cre)1Kln/?	involves: 129X1/SvJ * C57BL/6 * SJL	MGI:3720627
cn8	Ctnna1^tm1Efu/Ctnna1^tm1Efu Tg(MMTV-cre)4Mam/?	involves: 129X1/SvJ * FVB	MGI:3720649
cn9	Ctnna1^tm1Efu/Ctnna1^tm1Efu A1cf^Tg(Myh6-cre/Esr1*)1Jmk/A1cf^+	involves: 129X1/SvJ * FVB/N	MGI:5504499

Genotype
MGI:3830548

hm1

• Allelic Composition: Ctnna1^tm1Efu/Ctnna1^tm1Efu
• Genetic Background: involves: 129X1/SvJ

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

integument

abnormal skin physiology ( J:144091 )

• mice exhibit increased apoptosis in the epidermis compared to wild-type mice

Genotype
MGI:7467130

cn2

• Allelic Composition: Ctnna1^em1Xjz/Ctnna1^tm1Efu; Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺; Tg(Pdgfb-icre/ERT2,-EGFP)1Frut/0
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * C57BL/6J * C57BL/6NCrl * CBA

cardiovascular system

decreased angiogenesis ( J:328283 )

• slower growth of horizontal blood vessels in retina at age P7 after tamoxifen administration from age P1-P4

hemorrhage ( J:328283 )

• increased blood vessel leakage in retina at age P7 after tamoxifen administration from age P1-P4

vision/eye

abnormal retina development ( J:328283 )

• slower growth of horizontal blood vessels in retina at age P7 after tamoxifen administration from age P1-P4

• increased blood vessel leakage at age P7 after tamoxifen administration from age P1-P4

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
exudative vitreoretinopathy		DOID:0050535	OMIM:PS133780	J:328283

Genotype
MGI:7467113

cn3

• Allelic Composition: Ctnna1^tm1Efu/Ctnna1^tm1Efu; Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺; Tg(Pdgfb-icre/ERT2,-EGFP)1Frut/0
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * C57BL/6NCrl * CBA

cardiovascular system

decreased angiogenesis ( J:328283 )

• slower growth of horizontal blood vessels in retina at age P3 during tamoxifen administration from age P1-P4

• slower growth of horizontal blood vessels in retina at age P9 after tamoxifen administration from age P1-P4

• delayed growth of vertical blood vessels in superficial retina vascular plexus at age P9 after tamoxifen administration from age P1-P

• lack of vertical secondary and tertiary vessels in retina at age P9 after tamoxifen administration from age P1-P4

• defects of vascular growth into deeper layers of retina at age P9 after tamoxifen administration from age P1-P4

• defects in periphery of superficial retina vascular plexus at age P13 after tamoxifen administration from age P6

• fewer vessels in retina OPL and minimal vessels in retina IPL at age P13 after tamoxifen administration from age P6

increased angiogenesis ( J:328283 )

• enlarged superficial vessels in retina at age P9 after tamoxifen administration from age P1-P4

• enlarged blood vessels in brain at age P9 after tamoxifen administration from age P1-P4

hemorrhage ( J:328283 )

• in eyes after tamoxifen administration from age P1-P4

impaired blood-brain barrier function ( J:328283 )

• extensive blood leakage in brain at age P9 after tamoxifen administration from age P1-P4

vision/eye

abnormal retina development ( J:328283 )

• slower growth of horizontal blood vessels at age P3 during tamoxifen administration from age P1-P4

• slower growth of horizontal blood vessels and enlarged superficial vessels at age P9 after tamoxifen administration from age P1-P4

• delayed growth of vertical blood vessels in superficial retina vascular plexus at age P9 after tamoxifen administration from age P1-P4

• lack of vertical secondary and tertiary vessels at age P9 after tamoxifen administration from age P1-P4

• defects of vascular growth into deeper layers at age P9 after tamoxifen administration from age P1-P4

• defects in periphery of superficial retina vascular plexus at age P13 after tamoxifen administration from age P6

• fewer vessels in OPL and minimal vessels in IPL at age P13 after tamoxifen administration from age P6

• increased blood vessel leakage at age P9 after tamoxifen administration from age P1-P4

persistence of hyaloid vascular system ( J:328283 )

• slower regression after tamoxifen administration from age P1-P4

microphthalmia ( J:328283 )

• after tamoxifen administration from age P1-P4

mortality/aging

postnatal lethality, complete penetrance ( J:328283 )

• most mice die by age P9 after tamoxifen administration from age P1-P4

• mice die by age P13-P14 after tamoxifen administration from age P6

nervous system

impaired blood-brain barrier function ( J:328283 )

• extensive blood leakage in brain at age P9 after tamoxifen administration from age P1-P4

growth/size/body

decreased body size ( J:328283 )

• after tamoxifen administration from age P1-P4

slow postnatal weight gain ( J:328283 )

• after tamoxifen administration from age P1-P4

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
exudative vitreoretinopathy		DOID:0050535	OMIM:PS133780	J:328283

Genotype
MGI:5299326

cn4

• Allelic Composition: Ctnna1^tm1Efu/Ctnna1^tm1Efu; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129X1/SvJ

skeleton

abnormal skeleton development ( J:178499 )

• mice exhibit minimal effects on prenatal skeletal development

decreased width of hypertrophic chondrocyte zone ( J:178499 )

• at E15, mice exhibit a delay in chondrocyte hypertrophy

delayed intramembranous bone ossification ( J:178499 )

• at E18.5, ossification in the skull is slightly delayed

Genotype
MGI:3720633

cn5

• Allelic Composition: Ctnna1^tm1Efu/Ctnna1^tm1Efu; Tg(KRT14-cre)1Efu/?
• Genetic Background: involves: 129X1/SvJ

cellular

abnormal cell adhesion ( J:67797 )

• mice have severe intracellular adhesion defects

increased keratinocyte proliferation ( J:67797 )

• in culture, keratinocytes overgrow the monolayer, grow faster than wild-type cells, do not require a feeder layer, are more sensitive to growth factors, and have an increased ability to breakdown matrix

craniofacial

pointed snout ( J:67797 )

limbs/digits/tail

abnormal limb development ( J:67797 )

• limbs fail to develop completely

integument

increased keratinocyte proliferation ( J:67797 )

• in culture, keratinocytes overgrow the monolayer, grow faster than wild-type cells, do not require a feeder layer, are more sensitive to growth factors, and have an increased ability to breakdown matrix

abnormal hair follicle development ( J:67797 )

• mice have diminished signs of hair follicle development

absent vibrissae ( J:67797 )

abnormal dermal layer morphology ( J:67797 )

• epidermal-dermal boundary was difficult to discern

• clumps of keratinocytes with morphology and differentiation characteristic of epidermis and not hair follicles and that are devoid of surface epidermis are present within the dermis

abnormal epidermal layer morphology ( J:67797 )

• large sections of the epidermis are missing

abnormal epidermis stratum basale morphology ( J:67797 )

• epidermis is thick and disorganized, particularly within the basal cell layer

• basal cells are round and spinous

thick epidermis stratum basale ( J:67797 )

abnormal keratinocyte morphology ( J:67797 )

• keratinocytes are frequently binucleated and unusually large

epidermal desquamation ( J:67797 )

• visible peeling occurs

thick epidermis ( J:67797 )

• epidermis is thick and disorganized, particularly within the basal cell layer

• epidermal-dermal boundary was difficult to discern

growth/size/body

pointed snout ( J:67797 )

Genotype
MGI:3720651

cn6

• Allelic Composition: Ctnna1^tm1Efu/Ctnna1^tm1Efu; Tg(Wap-cre)11738Mam/?
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

growth/size/body

decreased body weight ( J:87469 )

• pups with homozygous mothers weight 50% of normal mice

postnatal growth retardation ( J:87469 )

• pups with homozygous mothers fail to thrive

endocrine/exocrine glands

abnormal mammary gland epithelium morphology ( J:87469 )

♀ • mammary glands have reduced numbers of epithelial cells

♀ • some epithelial cells remain condensed and disorganized without forming alveolar structures

♀ • lumens are absent from clusters of epithelium

abnormal milk composition ( J:87469 )

♀ • milk proteins are reduced

increased mammary gland apoptosis ( J:87469 )

♀ • apoptosis in mammary epithelium is increased

integument

abnormal mammary gland epithelium morphology ( J:87469 )

♀ • mammary glands have reduced numbers of epithelial cells

♀ • some epithelial cells remain condensed and disorganized without forming alveolar structures

♀ • lumens are absent from clusters of epithelium

abnormal milk composition ( J:87469 )

♀ • milk proteins are reduced

increased mammary gland apoptosis ( J:87469 )

♀ • apoptosis in mammary epithelium is increased

cellular

maternal effect ( J:87469 )

• pups with homozygous mothers fail to thrive, are about 50% of normal weight and some do not survive lactation

• in litters that experience lethality, the litters are reduced to 50% at day 5 and 25% by day 10

Genotype
MGI:3720627

cn7

• Allelic Composition: Ctnna1^tm1Efu/Ctnna1^tm1Efu; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:106707 )

• mice die between 2 and 3 weeks after birth

nervous system

abnormal neuron differentiation ( J:106707 )

• apical-junctional complexes and cell polarity is lost in neuronal progenitor cells

• some cells are non-polarized, round and loosely connected to each other

• at E13.5, neuronal progenitor cells have shorter cell cycles

• however, treatment with cyclopamine rescues normal cell cycling

abnormal brain morphology ( J:106707 )

• mice brains are dysplastic

• ventricular cells are scattered throughout the developing brain forming invasive tumor-like masses that displayed widespread pseudopalisading and the formation of rosettes

abnormal brain development ( J:106707 )

• starting at E13.5, embryonic brains are hyperplastic with twice as many cells at birth compared to in wild-type brains

• however, hyperplasia can be reversed by treating embryos with cyclopamine

increased brain weight ( J:106707 )

• brain weight and brain-weight-relative-to-body-weight are increased

abnormal lateral ventricle morphology ( J:106707 )

• the lateral ventricle is shifted posteriorly and ventrally

thickened cerebral cortex ( J:106707 )

• at E13.5, size and thickness of the cortex is increased

• apoptosis in the cortex is reduced by half

• however, treatment with cyclopamine rescues increased apoptosis rates

growth/size/body

megacephaly ( J:106707 )

• mice are born with enlarged heads

postnatal growth retardation ( J:106707 )

• despite mice having large heads that continue to grow, their bodies exhibit growth retardation

cellular

abnormal mitosis ( J:106707 )

• at E13.5, neuronal progenitor cells have shorter cell cycles

• however, treatment with cyclopamine rescues normal cell cycling

abnormal neuron differentiation ( J:106707 )

• apical-junctional complexes and cell polarity is lost in neuronal progenitor cells

• some cells are non-polarized, round and loosely connected to each other

• at E13.5, neuronal progenitor cells have shorter cell cycles

• however, treatment with cyclopamine rescues normal cell cycling

Genotype
MGI:3720649

cn8

• Allelic Composition: Ctnna1^tm1Efu/Ctnna1^tm1Efu; Tg(MMTV-cre)4Mam/?
• Genetic Background: involves: 129X1/SvJ * FVB

endocrine/exocrine glands

abnormal mammary gland epithelium morphology ( J:87469 )

♀ • mammary glands have reduced numbers of epithelial cells

♀ • some epithelial cells remain condensed and disorganized without forming alveolar structures

♀ • lumens are absent from clusters of epithelium

abnormal milk composition ( J:87469 )

♀ • milk proteins are reduced

abnormal mammary gland epithelium physiology ( J:87469 )

♀ • apoptosis in mammary epithelium is increased

increased mammary gland apoptosis ( J:87469 )

♀ • apoptosis in mammary epithelium is increased

integument

abnormal mammary gland epithelium morphology ( J:87469 )

♀ • mammary glands have reduced numbers of epithelial cells

♀ • some epithelial cells remain condensed and disorganized without forming alveolar structures

♀ • lumens are absent from clusters of epithelium

abnormal milk composition ( J:87469 )

♀ • milk proteins are reduced

abnormal mammary gland epithelium physiology ( J:87469 )

♀ • apoptosis in mammary epithelium is increased

increased mammary gland apoptosis ( J:87469 )

♀ • apoptosis in mammary epithelium is increased

abnormal hair follicle development ( J:87469 )

• occasionally hair development is not on schedule

Genotype
MGI:5504499

cn9

• Allelic Composition: Ctnna1^tm1Efu/Ctnna1^tm1Efu; A1cf^{Tg(Myh6-cre/Esr1*)1Jmk}/A1cf⁺
• Genetic Background: involves: 129X1/SvJ * FVB/N

cardiovascular system

dilated cardiomyopathy ( J:197814 )

• progressive 8 months after tamoxifen treatment

muscle

dilated cardiomyopathy ( J:197814 )

• progressive 8 months after tamoxifen treatment