All Phenotypes Spint2<Gt(KST272)Byg> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}	involves: 129P2/OlaHsd	MGI:5440262
hm2	Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}	involves: 129P2/OlaHsd * C57BL/6	MGI:3029268
cx3	Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14^tm1Bug	involves: 129P2/OlaHsd	MGI:5440263
cx4	Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14⁺	involves: 129P2/OlaHsd	MGI:5440264
cx5	F2rl1^tm1Cgh/F2rl1^tm1Cgh Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14⁺	involves: 129P2/OlaHsd * 129S4/SvJae	MGI:5440267
cx6	F2rl1^tm1Cgh/F2rl1^tm1Cgh Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}	involves: 129P2/OlaHsd * 129S4/SvJae	MGI:5440266
cx7	Prss8^em1Bug/Prss8^em1Bug Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J * FVB/NJ * NIH Black Swiss	MGI:6478321
cx8	Prss8^fr/Prss8^fr Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}	involves: 129P2/OlaHsd * DBA	MGI:5440273
cx9	Prss8^fr/Prss8⁺ Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}	involves: 129P2/OlaHsd * DBA	MGI:5440274
cx10	Prss8^fr/Prss8^fr Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14⁺	involves: 129P2/OlaHsd * DBA	MGI:5440275
cx11	Scnn1a^tm1.2Hum/Scnn1a^tm1.2Hum Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}	involves: 129/Sv * 129P2/OlaHsd	MGI:5440265

Allelic Composition	Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spint2^{Gt(KST272)Byg} mutation (0 available); any Spint2 mutation (15 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:188121 )

• only 5% survive past E9.0 and none survive past E10.5 (maternal genotype is heterozygous for St14^tm1Bug and Spint2^{Gt(KST272)Byg})

embryonic lethality between implantation and placentation, incomplete penetrance ( J:188121 )

• only 5% survive past E9.0

embryo

abnormal neural tube morphology ( J:188121 )

• neural tube defects involving the hindbrain, midbrain and forebrain are seen

• defects are generally observable at E9.5 or earlier

abnormal neural tube closure ( J:188121 )

• the dorsolateral hinge points critical for the final stages of the neural tube closure are absent in 97 percent of embryos

nervous system

abnormal neural tube morphology ( J:188121 )

• neural tube defects involving the hindbrain, midbrain and forebrain are seen

• defects are generally observable at E9.5 or earlier

abnormal neural tube closure ( J:188121 )

• the dorsolateral hinge points critical for the final stages of the neural tube closure are absent in 97 percent of embryos

exencephaly ( J:188121 )

• 10% of embryos fail to initiate fusion at closure point 2, resulting in exencephaly that extends from forebrain region to the hindbrain cervical boundary

• many embryos that initiate fusion at closure point 2 display exencephaly that spans the entire midbrain and hindbrain regions

Allelic Composition	Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spint2^{Gt(KST272)Byg} mutation (0 available); any Spint2 mutation (15 available)

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

mortality/aging

embryonic lethality between implantation and placentation, complete penetrance ( J:70273 )

• embryos die at gastrulation

embryo

abnormal gastrulation ( J:70273 )

• the primitive streak and the embryonic mesoderm develop, but embryos do not progress to the headfold stage

abnormal ectoderm development ( J:70273 )

• severe clefting of the ectoderm was noted

Allelic Composition	Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14^tm1Bug
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spint2^{Gt(KST272)Byg} mutation (0 available); any Spint2 mutation (15 available)
St14^tm1Bug mutation (0 available); any St14 mutation (45 available)

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

mortality/aging

mortality/aging ( J:188121 )

N	• embryos are viable unlike embryos homozygous for Spint2^{Gt(KST272)Byg} alone

embryo

embryo phenotype ( J:188121 )

N	• inactivation of St14 rescues defects in placental development seen in mice homozygous for Spint2^{Gt(KST272)Byg} alone

abnormal neural tube morphology ( J:188121 )

spina bifida ( J:188121 )

• in 18% of mice

• partial rescue compared to mice homozygous for Spint2^{Gt(KST272)Byg} and heterozygous for St14^tm1Bug

limbs/digits/tail

curly tail ( J:188121 )

• in 62% of mice

nervous system

abnormal neural tube morphology ( J:188121 )

spina bifida ( J:188121 )

• in 18% of mice

• partial rescue compared to mice homozygous for Spint2^{Gt(KST272)Byg} and heterozygous for St14^tm1Bug

exencephaly ( J:188121 )

• in 13% of mice

Allelic Composition	Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:188121 )

• lethality at E10.5-E14.5

embryonic lethality during organogenesis, incomplete penetrance ( J:188121 )

• survive longer than embryos homozygous for Spint2^{Gt(KST272)Byg} alone

• lethality at E10.5-E14.5

embryonic lethality between implantation and placentation, incomplete penetrance ( J:188121 )

• 45% of embryos die at E9.5 or earlier

embryo

spina bifida ( J:188121 )

• in 95-100% of mice

abnormal placenta morphology ( J:188121 )

• placental defects

abnormal placenta labyrinth morphology ( J:188121 )

• incomplete differentiation

limbs/digits/tail

curly tail ( J:188121 )

• in 89% of mice

nervous system

spina bifida ( J:188121 )

• in 95-100% of mice

exencephaly ( J:188121 )

• in 11% of mice

Allelic Composition	F2rl1^tm1Cgh/F2rl1^tm1Cgh Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14⁺
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
F2rl1^tm1Cgh mutation (3 available); any F2rl1 mutation (60 available)
Spint2^{Gt(KST272)Byg} mutation (0 available); any Spint2 mutation (15 available)
St14^tm1Bug mutation (0 available); any St14 mutation (45 available)

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

nervous system

exencephaly ( J:188121 )

• in all mice

• penetrance is identical to mutant mice wild-type for at least one F2rl1 allele

Allelic Composition	F2rl1^tm1Cgh/F2rl1^tm1Cgh Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae

Find Mice

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

mortality/aging

embryonic lethality, complete penetrance ( J:188121 )

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

mortality/aging

postnatal lethality, complete penetrance ( J:261068 )

• mice die 4 to 7 days after birth

growth/size/body

decreased birth weight ( J:261068 )

• 20% reduction in body weight at birth

postnatal growth retardation ( J:261068 )

• postnatal growth is severely impeded, despite mice having a milk spot indicating the ability to ingest food and mice fail to gain any weight after birth

digestive/alimentary system

intestinal hemorrhage ( J:261068 )

• intestines of most mice are filled with dark material that contains high number of red blood cells on P4, indicating bleeding into the lumen

abnormal enterocyte proliferation ( J:261068 )

• reduction in the proliferation rates of intestinal epithelial cells after birth, but not at E18.5, with about 70 and 80% decrease in Ki67+ epithelial cells in both small and large intestines at P2 and P4, respectively

• however, no apoptotic cells are detected in intestinal tissues from P2 to P4

abnormal digestive system morphology ( J:261068 )

• severe defect in the development of the lower gastrointestinal tract

abnormal intestine morphology ( J:261068 )

• intestines appear distended as early as P2, but not at E18.5

• essential loss of normal tissue architecture of both small and large intestines by P4

abnormal intestinal goblet cell morphology ( J:261068 )

• reduction of and near complete absence of mucin-producing goblet cells in small and large intestines at P2 and P4, respectively

abnormal intestinal epithelium morphology ( J:261068 )

• mice show general disorganization of intestinal epithelium within crypts of the large intestine at E18.5

• P2 large intestine exhibits disorganization of surface epithelium

• small intestine shows increased dyslocalization of nuclei within the epithelial layer indicating loss of epithelial cell polarity on P2

• P2 small intestine shows a substantial number of epithelial cells containing very large vacuoles

• abnormal differentiation of intestinal epithelium

abnormal large intestine morphology ( J:261068 )

• an increase in shedding of cellular material into the lumen of the large intestine is seen at E18.5

• P2 large intestine exhibits disorganization of surface epithelium and overall loss of crypt structure

abnormal large intestine crypts of Lieberkuhn morphology ( J:261068 )

• mice show general disorganization of intestinal epithelium within crypts of the large intestine at E18.5

• P2 large intestine exhibits overall loss of crypt structure

decreased colon goblet cell number ( J:261068 )

• decrease in the number of mucin-producing goblet cells in the large intestine at E18.5

abnormal small intestine morphology ( J:261068 )

• small intestine shows increased dyslocalization of nuclei within the epithelial layer indicating loss of epithelial cell polarity on P2

• P2 small intestine shows a substantial number of epithelial cells containing very large vacuoles

small intestinal villus atrophy ( J:261068 )

• small intestine shows signs of villous atrophy on P2 but not at E18.5

decreased intestine length ( J:261068 )

• relative length of the large intestine is reduced at P2 but not at E18.5

endocrine/exocrine glands

abnormal large intestine crypts of Lieberkuhn morphology ( J:261068 )

• mice show general disorganization of intestinal epithelium within crypts of the large intestine at E18.5

• P2 large intestine exhibits overall loss of crypt structure

decreased colon goblet cell number ( J:261068 )

• decrease in the number of mucin-producing goblet cells in the large intestine at E18.5

cardiovascular system

intestinal hemorrhage ( J:261068 )

• intestines of most mice are filled with dark material that contains high number of red blood cells on P4, indicating bleeding into the lumen

cellular

abnormal intestinal goblet cell morphology ( J:261068 )

• reduction of and near complete absence of mucin-producing goblet cells in small and large intestines at P2 and P4, respectively

decreased colon goblet cell number ( J:261068 )

• decrease in the number of mucin-producing goblet cells in the large intestine at E18.5

abnormal enterocyte proliferation ( J:261068 )

• however, no apoptotic cells are detected in intestinal tissues from P2 to P4

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital secretory sodium diarrhea 3		DOID:0060781	OMIM:270420	J:261068

Allelic Composition	Prss8^fr/Prss8^fr Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}
Genetic Background	involves: 129P2/OlaHsd * DBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prss8^fr mutation (13 available); any Prss8 mutation (24 available)
Spint2^{Gt(KST272)Byg} mutation (0 available); any Spint2 mutation (15 available)

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:188121 )

• many mice survive to term unlike mutant mice carrying at least 1 wild-type allele of Prss8

embryo

embryo phenotype ( J:188121 )

N	• almost complete rescue of neural tube closure and placental differentiation defects seen in mice homozygous for Spint2^{Gt(KST272)Byg} and heterozygous Prss8^fr

nervous system

exencephaly ( J:188121 )

• in 5% of embryos after E9.5

Allelic Composition	Prss8^fr/Prss8⁺ Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}
Genetic Background	involves: 129P2/OlaHsd * DBA

Find Mice

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

mortality/aging

embryonic lethality, complete penetrance ( J:188121 )

• no embryos are detected at E9.5-E11.5

Allelic Composition	Prss8^fr/Prss8^fr Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg} St14^tm1Bug/St14⁺
Genetic Background	involves: 129P2/OlaHsd * DBA

Find Mice

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

mortality/aging

mortality/aging ( J:188121 )

N	• expected numbers are found at term unlike mutant mice wild-type for St14

embryo

embryo phenotype ( J:188121 )

N	• complete rescue of neural tube closure and placental differentiation defects seen in mice homozygous for Spint2^{Gt(KST272)Byg} and heterozygous Prss8^fr

Allelic Composition	Scnn1a^tm1.2Hum/Scnn1a^tm1.2Hum Spint2^{Gt(KST272)Byg}/Spint2^{Gt(KST272)Byg}
Genetic Background	involves: 129/Sv * 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scnn1a^tm1.2Hum mutation (0 available); any Scnn1a mutation (28 available)
Spint2^{Gt(KST272)Byg} mutation (0 available); any Spint2 mutation (15 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:188121 )

• no embryos are detected at E9.5

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