Phenotypes associated with this allele

• Allele Symbol: Sufu^tm1Rto
• Allele Name: targeted mutation 1, Rune Toftgard
• Allele ID: MGI:3619046
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sufu^tm1Rto/Sufu^tm1Rto	involves: 129X1/SvJ * C57BL/6	MGI:3619448
ht2	Sufu^tm1Rto/Sufu^+	involves: 129X1/SvJ * C57BL/6	MGI:3619449

Genotype
MGI:3619448

hm1

• Allelic Composition: Sufu^tm1Rto/Sufu^tm1Rto
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:105832 )

• die around E9.5

nervous system

abnormal neural tube morphology ( J:105832 )

abnormal floor plate morphology ( J:105832 )

• ventralized neural tube

• floor plate markers expressed through out the neural tube

open neural tube ( J:105832 )

abnormal forebrain development ( J:105832 )

• open

abnormal hindbrain development ( J:105832 )

• open

abnormal midbrain development ( J:105832 )

• open

embryo

abnormal neural tube morphology ( J:105832 )

abnormal floor plate morphology ( J:105832 )

• ventralized neural tube

• floor plate markers expressed through out the neural tube

open neural tube ( J:105832 )

Genotype
MGI:3619449

ht2

• Allelic Composition: Sufu^tm1Rto/Sufu⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

pigmentation

abnormal coat/hair pigmentation ( J:105832 )

• increased pigmentation

integument

abnormal coat/hair pigmentation ( J:105832 )

• increased pigmentation

alopecia ( J:105832 )

• ventral alopecia

abnormal epidermis stratum basale morphology ( J:105832 )

• papules start out at 6 months of age as small evaginations from the basal epidermis on the palmar aspect of paws

• expand with time

abnormal skin appearance ( J:105832 )

• papules and nodules are visible on the paws and tail starting around 1.5 years of age

• become progressively worse with age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nevoid basal cell carcinoma syndrome		DOID:2512	OMIM:PS109400	J:105832