Phenotypes associated with this allele

• Allele Symbol: Sufu⁺
• Allele Name: wild type
• Allele ID: MGI:2438182
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Sufu^tm1b(KOMP)Wtsi/Sufu^+	C57BL/6N-Sufu^tm1b(KOMP)Wtsi/Ucd	MGI:5797851
ht2	Sufu^tm1Aeb/Sufu^+	either: 129S1/Sv-Sufu^tm1Aeb or (involves: 129S1/Sv * C57BL/6)	MGI:3606233
ht3	Sufu^tm1Rto/Sufu^+	involves: 129X1/SvJ * C57BL/6	MGI:3619449
cx4	Sufu^Gt(XB699)Byg/Sufu^+ Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:3759457

Genotype
MGI:5797851

ht1

• Allelic Composition: Sufu^{tm1b(KOMP)Wtsi}/Sufu⁺
• Genetic Background: C57BL/6N-Sufu^{tm1b(KOMP)Wtsi}/Ucd
• Cell Lines: EPD0702_3_A09

Data Sources

IMPC Data for Sufu

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

adipose tissue

decreased total body fat amount ( J:211773 )

♀

IMPC - TCP

behavior/neurological

increased startle reflex ( J:211773 )

♂

IMPC - TCP

cardiovascular system

cardiovascular system phenotype ( J:211773 )

♀

IMPC - TCP

digestive/alimentary system

abnormal stomach morphology ( J:211773 )

♂

IMPC - TCP

immune system

enlarged lymph nodes ( J:211773 )

♂

IMPC - TCP

Genotype
MGI:3606233

ht2

• Allelic Composition: Sufu^tm1Aeb/Sufu⁺
• Genetic Background: either: 129S1/Sv-Sufu^tm1Aeb or (involves: 129S1/Sv * C57BL/6)

normal phenotype

no abnormal phenotype detected ( J:101731 )

• exhibit no obvious abnormalities, internal malformations or tumor predisposition

Genotype
MGI:3619449

ht3

• 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

Genotype
MGI:3759457

cx4

• Allelic Composition: Sufu^Gt(XB699)Byg/Sufu⁺; Trp53^tm1Tyj/Trp53^tm1Tyj
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

mortality/aging

premature death ( J:125534 )

• mice die around 4 months of age compared to Trp53^tm1Tyj homozygotes that survive to 5 months

neoplasm

increased rhabdomyosarcoma incidence ( J:125534 )

• unlike Sufu^GT(XB699)Byg heterozygotes, 5 of 55 mice develop rhabdomyosarcoma

increased lymphoma incidence ( J:125534 )

• unlike Sufu^GT(XB699)Byg heterozygotes, 8 of 55 mice develop lymphomas or thymomas likely due to Trp53^tm1Tyj

increased medulloblastoma incidence ( J:125534 )

• unlike Sufu^GT(XB699)Byg heterozygotes, 32 of 55 mice develop medulloblastomas that express TUBB3 and GFAP and exhibit increased apoptosis

nervous system

increased medulloblastoma incidence ( J:125534 )

• unlike Sufu^GT(XB699)Byg heterozygotes, 32 of 55 mice develop medulloblastomas that express TUBB3 and GFAP and exhibit increased apoptosis

muscle

increased rhabdomyosarcoma incidence ( J:125534 )

• unlike Sufu^GT(XB699)Byg heterozygotes, 5 of 55 mice develop rhabdomyosarcoma

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:173443