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 (19 available)
Kdf1^{tm1a(EUCOMM)Wtsi} mutation (0 available); any Kdf1 mutation (19 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 (19 available)
Trp63^tm2Brd mutation (1 available); any Trp63 mutation (58 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 (19 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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/30/2025 MGI 6.24