Phenotypes associated with this allele

• Allele Symbol: Kctd1^{tm1c(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1c, Wellcome Trust Sanger Institute
• Allele ID: MGI:6502868
• Summary: 10 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Kctd1^tm1c(EUCOMM)Wtsi/Kctd1^tm1c(EUCOMM)Wtsi Kctd15^tm1c(EUCOMM)Wtsi/Kctd15^+ E2f1^Tg(Wnt1-cre)2Sor/E2f1^+	involves: 129S4/SvJae * C57BL/6J * C57BL/6N	MGI:7657817
cn2	Kctd1^tm1c(EUCOMM)Wtsi/Kctd1^+ Kctd15^tm1c(EUCOMM)Wtsi/Kctd15^tm1c(EUCOMM)Wtsi E2f1^Tg(Wnt1-cre)2Sor/E2f1^+	involves: 129S4/SvJae * C57BL/6J * C57BL/6N	MGI:7657818
cn3	Kctd1^tm1c(EUCOMM)Wtsi/Kctd1^tm1c(EUCOMM)Wtsi Kctd15^tm1c(EUCOMM)Wtsi/Kctd15^tm1c(EUCOMM)Wtsi E2f1^Tg(Wnt1-cre)2Sor/E2f1^+	involves: 129S4/SvJae * C57BL/6J * C57BL/6N	MGI:7657819
cn4	Kctd1^tm1c(EUCOMM)Wtsi/Kctd1^+ Kctd15^tm1c(EUCOMM)Wtsi/Kctd15^+ E2f1^Tg(Wnt1-cre)2Sor/E2f1^+	involves: 129S4/SvJae * C57BL/6J * C57BL/6N	MGI:7657816
cn5	Kctd1^tm1c(EUCOMM)Wtsi/Kctd1^tm1c(EUCOMM)Wtsi Tg(Aqp2-cre)1Dek/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:7657840
cn6	Kctd1^tm1c(EUCOMM)Wtsi/Kctd1^tm1c(EUCOMM)Wtsi Kctd15^tm1c(EUCOMM)Wtsi/Kctd15^tm1c(EUCOMM)Wtsi Tg(Aqp2-cre)1Dek/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:7657842
cn7	Kctd1^tm1c(EUCOMM)Wtsi/Kctd1^tm1c(EUCOMM)Wtsi Tg(Six2-EGFP/cre)1Amc/0	involves: C57BL/6J * C57BL/6N * CD-1	MGI:7657838
cn8	Kctd1^tm1c(EUCOMM)Wtsi/Kctd1^tm1c(EUCOMM)Wtsi Tg(NPHS2-cre)295Lbh/0	involves: C57BL/6J * C57BL/6N * SJL	MGI:7657843
cn9	Kctd1^tm1c(EUCOMM)Wtsi/Kctd1^tm1c(EUCOMM)Wtsi Kctd15^tm1c(EUCOMM)Wtsi/Kctd15^tm1c(EUCOMM)Wtsi Tg(KRT14-cre)1Amc/0	involves: C57BL/6N * C57BL/6NJ	MGI:7657832
cn10	Kctd1^tm1c(EUCOMM)Wtsi/Kctd1^tm1c(EUCOMM)Wtsi Tg(KRT14-cre)1Amc/0	involves: C57BL/6N * C57BL/6NJ	MGI:7657829

Genotype
MGI:7657817

cn1

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1^{tm1c(EUCOMM)Wtsi}; Kctd15^{tm1c(EUCOMM)Wtsi}/Kctd15⁺; E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * C57BL/6N
• Cell Lines: EPD0177_1_E09

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

pigmentation

belly spot ( J:344153 )

• mice exhibit smaller white belly patches than mice that are homozygous for Kctd15^{tm1c(EUCOMM)Wtsi} and heterozygous for E2f1^{Tg(Wnt1-cre)2Sor}

integument

belly spot ( J:344153 )

• mice exhibit smaller white belly patches than mice that are homozygous for Kctd15^{tm1c(EUCOMM)Wtsi} and heterozygous for E2f1^{Tg(Wnt1-cre)2Sor}

Genotype
MGI:7657818

cn2

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1⁺; Kctd15^{tm1c(EUCOMM)Wtsi}/Kctd15^{tm1c(EUCOMM)Wtsi}; E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * C57BL/6N
• Cell Lines: EPD0177_1_E09

integument

belly spot ( J:344153 )

• mice exhibit larger white belly patches than mice that are homozygous for Kctd15^{tm1c(EUCOMM)Wtsi} and heterozygous for E2f1^{Tg(Wnt1-cre)2Sor}

pigmentation

belly spot ( J:344153 )

• mice exhibit larger white belly patches than mice that are homozygous for Kctd15^{tm1c(EUCOMM)Wtsi} and heterozygous for E2f1^{Tg(Wnt1-cre)2Sor}

Genotype
MGI:7657819

cn3

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1^{tm1c(EUCOMM)Wtsi}; Kctd15^{tm1c(EUCOMM)Wtsi}/Kctd15^{tm1c(EUCOMM)Wtsi}; E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * C57BL/6N
• Cell Lines: EPD0177_1_E09

integument

thin epidermis ( J:344153 )

• newborns exhibit thin/eroded epidermis of the midline scalp

• a thinned epidermis with a flat Krt5+ basal layer overlying the interfrontal suture is noted at PO

skin lesions ( J:344153 )

• aplasia cutis congenita (ACC)-like lesions occur along abnormal interfrontal or sagittal sutures and show a thin epidermis with a flat Krt5+ basal layer

craniofacial

abnormal cranial suture morphology ( J:344153 )

• at P0, mice show abnormal, overextended midline cranial sutures with a receded osteogenic front

wide metopic suture ( J:344153 )

• at P0, mice show an increased distance between frontal bones at the site where the interfrontal suture crosses with the coronal suture

short frontal bone ( J:344153 )

• at P0, mice exhibit shortened frontal bones

absent incisors ( J:344153 )

• at P0, mice exhibit absence of mandibular and maxillary incisors

absent lower incisors ( J:344153 )

• absence of mandibular incisors at P0

absent upper incisors ( J:344153 )

• absence of maxillary incisors at P0

abnormal craniofacial development ( J:344153 )

• newborns show congenital bone/suture defects of neural crest cell (NCC)-derived structures of the midline skull associated with overlying membranous aplasia cutis congenita (ACC)-like skin defects with epidermal thinning

• midline skull/suture defects likely cause ACC as a result of reduced spatiotemporal expression of keratinocyte-promoting growth factors at that site

abnormal nose morphology ( J:344153 )

• at P0, mice exhibit nasal airway abnormalities

• flat nasal structures are noted at E17.0

absent nasal bone ( J:344153 )

• microCT images show loss of nasal bones at P0

small nasal bone ( J:344153 )

• at P0, mice exhibit diminished nasal bones

abnormal nasal cartilage morphology ( J:344153 )

• at P0, mice exhibit diminished nasal cartilage

nervous system

ectopic neuron ( J:344153 )

• at P0, mice display a cutaneous midline scalp mass consisting of heterotopic beta3-tubulin+ neuronal tissue, similar to heterotopic brain tissue observed at skin sites adjacent to membranous ACC lesions in patients

vision/eye

abnormal eyelid development ( J:344153 )

• open eyes with abnormal eyelids are noted at E17.0 and P0

eyelids open at birth ( J:344153 )

• mice have open eyelids at P0

cardiovascular system

abnormal heart morphology ( J:344153 )

• at P0, mice show cardiac defects, including subaortic membranous ventricular septal defects (VSDs), an overriding aorta, and bicuspid aortic valves

overriding aortic valve ( J:344153 )

• at PO, hearts show an overriding aorta

perimembraneous ventricular septal defect ( J:344153 )

• mice exhibit congenital subaortic membranous VSDs

bicuspid aortic valve ( J:344153 )

• at PO, hearts show bicuspid aortic valves

growth/size/body

absent incisors ( J:344153 )

• at P0, mice exhibit absence of mandibular and maxillary incisors

absent lower incisors ( J:344153 )

• absence of mandibular incisors at P0

absent upper incisors ( J:344153 )

• absence of maxillary incisors at P0

abnormal nose morphology ( J:344153 )

• at P0, mice exhibit nasal airway abnormalities

• flat nasal structures are noted at E17.0

absent nasal bone ( J:344153 )

• microCT images show loss of nasal bones at P0

small nasal bone ( J:344153 )

• at P0, mice exhibit diminished nasal bones

abnormal nasal cartilage morphology ( J:344153 )

• at P0, mice exhibit diminished nasal cartilage

abnormal scalp morphology ( J:344153 )

• newborns exhibit thin/eroded epidermis of the midline scalp; whole-mount Krt5 and ILB4 immunolabeling of scalp skin shows an aplasia cutis congenita (ACC)-like region

skeleton

abnormal cranial suture morphology ( J:344153 )

• at P0, mice show abnormal, overextended midline cranial sutures with a receded osteogenic front

wide metopic suture ( J:344153 )

• at P0, mice show an increased distance between frontal bones at the site where the interfrontal suture crosses with the coronal suture

short frontal bone ( J:344153 )

• at P0, mice exhibit shortened frontal bones

absent incisors ( J:344153 )

• at P0, mice exhibit absence of mandibular and maxillary incisors

absent lower incisors ( J:344153 )

• absence of mandibular incisors at P0

absent upper incisors ( J:344153 )

• absence of maxillary incisors at P0

absent nasal bone ( J:344153 )

• microCT images show loss of nasal bones at P0

small nasal bone ( J:344153 )

• at P0, mice exhibit diminished nasal bones

abnormal nasal cartilage morphology ( J:344153 )

• at P0, mice exhibit diminished nasal cartilage

abnormal intramembranous bone ossification ( J:344153 )

• at P0, mice show reduced ossification along the interfrontal and sagittal sutures and expanded non-ossified area at that site

delayed intramembranous bone ossification ( J:344153 )

• at P0, mice show delayed frontal bone ossification along the interfrontal suture

delayed cranial suture closure ( J:344153 )

• at P0, mice delayed ossification of the interfrontal suture

respiratory system

abnormal nose morphology ( J:344153 )

• at P0, mice exhibit nasal airway abnormalities

• flat nasal structures are noted at E17.0

absent nasal bone ( J:344153 )

• microCT images show loss of nasal bones at P0

small nasal bone ( J:344153 )

• at P0, mice exhibit diminished nasal bones

abnormal nasal cartilage morphology ( J:344153 )

• at P0, mice exhibit diminished nasal cartilage

Genotype
MGI:7657816

cn4

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1⁺; Kctd15^{tm1c(EUCOMM)Wtsi}/Kctd15⁺; E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * C57BL/6N
• Cell Lines: EPD0177_1_E09

pigmentation

pigmentation phenotype ( J:344153 )

N • mice do not exhibit a pigmentation defect

integument

integument phenotype ( J:344153 )

N • newborn mice do not exhibit a thinned epidermis of the midline scalp

craniofacial

craniofacial phenotype ( J:344153 )

N • newborn mice exhibit normal incisor formation

Genotype
MGI:7657840

cn5

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1^{tm1c(EUCOMM)Wtsi}; Tg(Aqp2-cre)1Dek/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

renal/urinary system

renal/urinary system phenotype ( J:344153 )

N • at 2-4 months of age, mice exhibit no alterations in blood urea nitrogen (BUN) levels relative to controls, indicating normal kidney function

Genotype
MGI:7657842

cn6

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1^{tm1c(EUCOMM)Wtsi}; Kctd15^{tm1c(EUCOMM)Wtsi}/Kctd15^{tm1c(EUCOMM)Wtsi}; Tg(Aqp2-cre)1Dek/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL
• Cell Lines: EPD0177_1_E09

renal/urinary system

renal/urinary system phenotype ( J:344153 )

• adult mice exhibit normal kidney morphology relative to controls

Genotype
MGI:7657838

cn7

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1^{tm1c(EUCOMM)Wtsi}; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: C57BL/6J * C57BL/6N * CD-1

renal/urinary system

renal interstitial fibrosis ( J:344153 )

• mice develop severe interstitial renal fibrosis with aging, as seen in patients with Scalp-Ear-Nipple (SEN) syndrome

abnormal distal convoluted tubule morphology ( J:344153 )

• mice show a terminal differentiation defect in the distal convoluted tubule (DCT)

dilated distal convoluted tubule ( J:344153 )

• at 3 months of age, mice show abnormal and dilated distal nephron segments in the kidney cortex

abnormal kidney physiology ( J:344153 )

• adult mice exhibit a distal nephron defect resulting in impaired renal function

homeostasis/metabolism

increased blood urea nitrogen level ( J:344153 )

• mice exhibit elevated BUN at 2-4 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
scalp-ear-nipple syndrome		DOID:0111550	OMIM:181270	J:344153

Genotype
MGI:7657843

cn8

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1^{tm1c(EUCOMM)Wtsi}; Tg(NPHS2-cre)295Lbh/0
• Genetic Background: involves: C57BL/6J * C57BL/6N * SJL

renal/urinary system

renal/urinary system phenotype ( J:344153 )

N • at 2-4 months of age, mice exhibit normal kidney morphology with no alterations in blood urea nitrogen (BUN) levels relative to controls, indicating normal kidney function

Genotype
MGI:7657832

cn9

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1^{tm1c(EUCOMM)Wtsi}; Kctd15^{tm1c(EUCOMM)Wtsi}/Kctd15^{tm1c(EUCOMM)Wtsi}; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6N * C57BL/6NJ
• Cell Lines: EPD0177_1_E09

growth/size/body

decreased body size ( J:344153 )

• mice are significantly smaller than controls at P7

postnatal growth retardation ( J:344153 )

• mice are born with normal body weight but develop a postnatal growth retardation

integument

small sebaceous gland ( J:344153 )

• tail skin shows markedly reduced sebaceous glands by 8 months of age

• adult footpad skin shows diminished sebaceous glands

decreased eccrine gland number ( J:344153 )

• adult foot pad skin shows strongly reduced eccrine sweat gland numbers

anhidrosis ( J:344153 )

• mice exhibit anhidrosis

abnormal coat/ hair morphology ( J:344153 )

• mice show structural hair abnormalities

delayed hair appearance ( J:344153 )

• mice exhibit a delay in hair growth at P7

sparse hair ( J:344153 )

• at P21, mice have a sparser fur coat and patches with reduced hair on the upper back

• adult mice show a generalized sparseness of the fur coat by 8 months of age

• however, no aplasia cutis congenita (ACC)-like lesions are observed

abnormal hair shaft morphology ( J:344153 )

• at 3 weeks of age, back skin shows structural hair shaft abnormalities

• at 8 months of age, tail skin shows abnormal hairs

abnormal hair follicle morphology ( J:344153 )

• at P4, skin shows abnormal and shorter hair follicles

• at 3 weeks of age, tail skin shows hair follicles with flattened scale/interscale junctions

small hair follicles ( J:344153 )

• at P4, skin shows shorter hair follicles

abnormal vibrissa follicle morphology ( J:344153 )

• mice show abnormal whisker hair follicles

curly vibrissae ( J:344153 )

• at P4 and P13, mice exhibit curly whiskers

thin skin ( J:344153 )

• at P4, skin thickness is significantly reduced relative to controls

abnormal skin development ( J:344153 )

• mice exhibit a delay in skin maturation

limbs/digits/tail

decreased eccrine gland number ( J:344153 )

• adult foot pad skin shows strongly reduced eccrine sweat gland numbers

interdigital webbing ( J:344153 )

• at P4, mice exhibit a delay in interdigital web space formation

vision/eye

delayed eyelid opening ( J:344153 )

• at P13, mice exhibit a delay in eyelid opening

endocrine/exocrine glands

small sebaceous gland ( J:344153 )

• tail skin shows markedly reduced sebaceous glands by 8 months of age

• adult footpad skin shows diminished sebaceous glands

decreased eccrine gland number ( J:344153 )

• adult foot pad skin shows strongly reduced eccrine sweat gland numbers

anhidrosis ( J:344153 )

• mice exhibit anhidrosis

craniofacial

craniofacial phenotype ( J:344153 )

N • mice exhibit normal incisor formation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
scalp-ear-nipple syndrome		DOID:0111550	OMIM:181270	J:344153

Genotype
MGI:7657829

cn10

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1^{tm1c(EUCOMM)Wtsi}; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6N * C57BL/6NJ

integument

integument phenotype ( J:344153 )

N • mice do not exhibit an apparent skin or hair phenotype