All Phenotypes Frem2<my-Ucl> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Frem2^my-Ucl
myencephalic blebs, University College of London
MGI:3578641

Summary

3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Frem2^my-Ucl/Frem2^my-Ucl	involves: NMRI	MGI:3579980
ht2	Frem2^{Gt(KST252)Byg}/Frem2^my-Ucl	involves: 129P2/OlaHsd * CD-1 * NMRI	MGI:3579982
cx3	Fras1^bl/Fras1^bl Frem2^my-Ucl/Frem2^my-Ucl	involves: 101/H * C3H/HeH * NMRI	MGI:3579981

Allelic Composition	Frem2^my-Ucl/Frem2^my-Ucl
Genetic Background	involves: NMRI

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Frem2^my-Ucl mutation (0 available); any Frem2 mutation (137 available)

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:98344 )

• approximately 50% of homozygotes die before birth

limbs/digits/tail

syndactyly ( J:98344 )

• cutaneous syndactyly and occasional bony syndactyly and polydactyly

vision/eye

cryptophthalmos ( J:98344 )

integument

fetal bleb ( J:98344 )

• shows epithelial "blebbing" during embryogenesis starting at E11.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fraser syndrome		DOID:0090001	OMIM:PS219000	J:98344

Allelic Composition	Frem2^{Gt(KST252)Byg}/Frem2^my-Ucl
Genetic Background	involves: 129P2/OlaHsd * CD-1 * NMRI

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Frem2^{Gt(KST252)Byg} mutation (2 available); any Frem2 mutation (137 available)
Frem2^my-Ucl mutation (0 available); any Frem2 mutation (137 available)

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

integument

bleb ( J:98344 )

• shows epidermal "blebs" during embryogenesis with a frequency and severity indistinguishable from that of mice homozygous for Frem2^Ucl

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fraser syndrome		DOID:0090001	OMIM:PS219000	J:98344

Allelic Composition	Fras1^bl/Fras1^bl Frem2^my-Ucl/Frem2^my-Ucl
Genetic Background	involves: 101/H * C3H/HeH * NMRI

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fras1^bl mutation (3 available); any Fras1 mutation (216 available)
Frem2^my-Ucl mutation (0 available); any Frem2 mutation (137 available)

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:98344 )

• approximately 50% homozygotes died before birth

limbs/digits/tail

syndactyly ( J:98344 )

• cutaneous syndactyly and occasional bony syndactyly and polydactyly

vision/eye

cryptophthalmos ( J:98344 )

renal/urinary system

kidney cortex cyst ( J:98344 )

• adult mice (20 weeks) developed renal cysts

• increased proliferation and apoptosis are seen in these cysts

integument

fetal bleb ( J:98344 )

• shows epithelial "blebbing" during embryogenesis starting at E11.5

growth/size/body

kidney cortex cyst ( J:98344 )

• adult mice (20 weeks) developed renal cysts

• increased proliferation and apoptosis are seen in these cysts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fraser syndrome		DOID:0090001	OMIM:PS219000	J:98344

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