All Phenotypes Kdf1<shd> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kdf1^shd/Kdf1^shd	involves: C3HeB/FeJ * C57BL/6J	MGI:5559507
ht2	Kdf1^shd/Kdf1^{tm1a(EUCOMM)Wtsi}	involves: C3HeB/FeJ * C57BL/6J * C57BL/6N	MGI:5559503
cx3	Kdf1^shd/Kdf1^shd Trp63^tm2Brd/Trp63⁺	involves: 129S7/SvEvBrd * C3HeB/FeJ * C57BL/6J	MGI:5559506
cx4	Kdf1^shd/Kdf1⁺ Sfn^Er/Sfn⁺	involves: C3HeB/FeJ * C57BL/6J	MGI:5559505

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

mortality/aging

neonatal lethality, complete penetrance ( J:203995 )

• mice die at birth likely due to epidermis covering the mouth and nose

reproductive system

abnormal reproductive system morphology ( J:203995 )

• fusion between hindlimb, tail and genitals due to overgrowth of the epidermis at E18.5

integument

abnormal keratinocyte differentiation ( J:203995 )

• differentiated keritonocytes are poorly defined in the basal layer and retain their nuclei

• impaired basal keratinocyte progeny

increased keratinocyte proliferation ( J:203995 )

• 70-fold in suprabasal keratinocyte proliferation

• in the basal layer

impaired skin barrier function ( J:203995 )

• defective epidermal barrier formation

absent epidermis stratum corneum ( J:203995 )

thick epidermis ( J:203995 )

• thickened dorsal epidermis at E12.5

tight skin ( J:203995 )

• without wrinkles

limbs/digits/tail

abnormal hindlimb morphology ( J:203995 )

• fusion between hindlimb, tail and genitals due to overgrowth of the epidermis at E18.5

short limbs ( J:203995 )

• at E12.5

short forelimb ( J:203995 )

• short forelimbs at E18.5

abnormal tail morphology ( J:203995 )

• fusion between hindlimb, tail and genitals due to overgrowth of the epidermis at E18.5

craniofacial

palatal shelf fusion with tongue or mandible ( J:203995 )

• fusion of tongue with palatal shelf epithelium resulting in cleft palate

cleft palate ( J:203995 )

• due to fusion of tongue with palatal shelf epithelium

abnormal tongue epithelium morphology ( J:203995 )

• fusion of tongue with palatal shelf epithelium resulting in cleft palate

oral atresia ( J:203995 )

• at E18.5

abnormal nose morphology ( J:203995 )

• epidermis covers the nose opening

short snout ( J:203995 )

• at E12.5

digestive/alimentary system

palatal shelf fusion with tongue or mandible ( J:203995 )

• fusion of tongue with palatal shelf epithelium resulting in cleft palate

cleft palate ( J:203995 )

• due to fusion of tongue with palatal shelf epithelium

abnormal tongue epithelium morphology ( J:203995 )

• fusion of tongue with palatal shelf epithelium resulting in cleft palate

abnormal esophageal epithelium morphology ( J:203995 )

• complete fusion with no lumen

hearing/vestibular/ear

abnormal ear development ( J:203995 )

• lack of ear opening at E18.5

homeostasis/metabolism

impaired skin barrier function ( J:203995 )

• defective epidermal barrier formation

respiratory system

abnormal nose morphology ( J:203995 )

• epidermis covers the nose opening

cellular

abnormal keratinocyte differentiation ( J:203995 )

• differentiated keritonocytes are poorly defined in the basal layer and retain their nuclei

• impaired basal keratinocyte progeny

increased keratinocyte proliferation ( J:203995 )

• 70-fold in suprabasal keratinocyte proliferation

• in the basal layer

growth/size/body

palatal shelf fusion with tongue or mandible ( J:203995 )

• fusion of tongue with palatal shelf epithelium resulting in cleft palate

cleft palate ( J:203995 )

• due to fusion of tongue with palatal shelf epithelium

abnormal tongue epithelium morphology ( J:203995 )

• fusion of tongue with palatal shelf epithelium resulting in cleft palate

oral atresia ( J:203995 )

• at E18.5

abnormal nose morphology ( J:203995 )

• epidermis covers the nose opening

short snout ( J:203995 )

• at E12.5

Allelic Composition	Kdf1^shd/Kdf1^{tm1a(EUCOMM)Wtsi}
Genetic Background	involves: C3HeB/FeJ * C57BL/6J * C57BL/6N
Cell Lines	EPD0177_3_A04

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kdf1^shd mutation (0 available); any Kdf1 mutation (17 available)
Kdf1^{tm1a(EUCOMM)Wtsi} mutation (0 available); any Kdf1 mutation (17 available)

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

integument

abnormal keratinocyte differentiation ( J:203995 )

impaired skin barrier function ( J:203995 )

homeostasis/metabolism

impaired skin barrier function ( J:203995 )

cellular

abnormal keratinocyte differentiation ( J:203995 )

Allelic Composition	Kdf1^shd/Kdf1^shd Trp63^tm2Brd/Trp63⁺
Genetic Background	involves: 129S7/SvEvBrd * C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kdf1^shd mutation (0 available); any Kdf1 mutation (17 available)
Trp63^tm2Brd mutation (1 available); any Trp63 mutation (60 available)

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

integument

integument phenotype ( J:203995 )

N	• epidermal barrier formation, increased basal keratinocyte proliferation, lateral epidermis thickness and impaired keratinocyte differentiation defects observed in 1810019J16Rik^shd homozygotes are rescued

limbs/digits/tail

limbs/digits/tail phenotype ( J:203995 )

N	• limb protrusion defects and tail-hindlimb fusion observed in 1810019J16Rik^shd homozygotes homozygotes is rescued

Allelic Composition	Kdf1^shd/Kdf1⁺ Sfn^Er/Sfn⁺
Genetic Background	involves: C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kdf1^shd mutation (0 available); any Kdf1 mutation (17 available)
Sfn^Er mutation (1 available); any Sfn mutation (15 available)

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:203995 )

• despite Mendelian numbers during embryonic development, only 1 mouse was obtained postnatally

integument

impaired skin barrier function ( J:203995 )

• in several areas, pronounced in the eyelids, ears, snout, digit/tail tips, chin and two dorsal stripes

abnormal epidermis stratum corneum morphology ( J:203995 )

• breaks in the cornified layer in dorsal stripes

• however, most regions exhibit normal cornified layers

thick epidermis ( J:203995 )

craniofacial

cleft palate ( J:203995 )

• in the one recovered mouse

oral atresia ( J:203995 )

• in the one recovered mouse

homeostasis/metabolism

impaired skin barrier function ( J:203995 )

• in several areas, pronounced in the eyelids, ears, snout, digit/tail tips, chin and two dorsal stripes

digestive/alimentary system

cleft palate ( J:203995 )

• in the one recovered mouse

growth/size/body

cleft palate ( J:203995 )

• in the one recovered mouse

oral atresia ( J:203995 )

• in the one recovered mouse

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