Phenotypes associated with this allele

• Allele Symbol: Mnt^tm1.1Awb
• Allele Name: targeted mutation 1.1, Anthony Wynshaw-Boris
• Allele ID: MGI:3044352
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mnt^tm1.1Awb/Mnt^tm1.1Awb	involves: 129S6/SvEvTac	MGI:3044749
hm2	Mnt^tm1.1Awb/Mnt^tm1.1Awb	involves: 129S6/SvEvTac * FVB/N	MGI:3044750
cn3	Mnt^tm1Awb/Mnt^tm1.1Awb Tg(MMTV-cre)4Mam/?	involves: 129S6/SvEvTac * FVB/N	MGI:3718675

Genotype
MGI:3044749

hm1

• Allelic Composition: Mnt^tm1.1Awb/Mnt^tm1.1Awb
• Genetic Background: involves: 129S6/SvEvTac

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:90397 )

• mice survive for 10 days to 3 weeks

• about 3.5% of homozygotes survive to adulthood

behavior/neurological

absent gastric milk in neonates ( J:90397 )

• after birth, pups had reduced quantities of milk in their stomachs compared to controls

growth/size/body

decreased birth body size ( J:90397 )

• smaller than normal at birth

abnormal postnatal growth ( J:90397 )

• embryonic growth deficit made up by adulthood

decreased fetal size ( J:90397 )

• smaller than normal at E14.5 and E18.5

reproductive system

reproductive system phenotype ( J:90397 )

N • surviving homozygotes were fertile

Genotype
MGI:3044750

hm2

• Allelic Composition: Mnt^tm1.1Awb/Mnt^tm1.1Awb
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

mortality/aging

neonatal lethality, incomplete penetrance ( J:90397 )

• most died at birth or within 4 days after birth

• less than 2% of homozygotes survive to adulthood

behavior/neurological

absent gastric milk in neonates ( J:90397 )

• after birth, pups had reduced quantities of milk in their stomachs compared to controls

craniofacial

small cranium ( J:90397 )

• relatively symmetrical reductions in length and width

abnormal neurocranium morphology ( J:90397 )

small interparietal bone ( J:90397 )

• reduced in size

small occipital bone ( J:90397 )

abnormal viscerocranium morphology ( J:90397 )

small mandible ( J:90397 )

• reductions in dimensions greater than for the skull as a whole

absent palatine bone ( J:90397 )

• bone absent in many animals with cleft palates

cleft palate ( J:90397 )

• seen in about 37% of homozygotes and may involve either or both hard and soft palate

• normal closure of the palate at E14.5 did not occur

failure of palatal shelf elevation ( J:90397 )

• the tongue prevents the elevation of palate shelves in homozygous mice and is a possible consequence of the small jaw

growth/size/body

cleft palate ( J:90397 )

• seen in about 37% of homozygotes and may involve either or both hard and soft palate

• normal closure of the palate at E14.5 did not occur

failure of palatal shelf elevation ( J:90397 )

• the tongue prevents the elevation of palate shelves in homozygous mice and is a possible consequence of the small jaw

decreased birth body size ( J:90397 )

• smaller than normal at birth

abnormal postnatal growth ( J:90397 )

• embryonic growth deficit made up by adulthood

decreased fetal size ( J:90397 )

• smaller than normal at E14.5 and E18.5

reproductive system

reproductive system phenotype ( J:90397 )

N • surviving homozygotes were fertile

skeleton

small cranium ( J:90397 )

• relatively symmetrical reductions in length and width

abnormal neurocranium morphology ( J:90397 )

small interparietal bone ( J:90397 )

• reduced in size

small occipital bone ( J:90397 )

abnormal viscerocranium morphology ( J:90397 )

small mandible ( J:90397 )

• reductions in dimensions greater than for the skull as a whole

absent palatine bone ( J:90397 )

• bone absent in many animals with cleft palates

digestive/alimentary system

cleft palate ( J:90397 )

• seen in about 37% of homozygotes and may involve either or both hard and soft palate

• normal closure of the palate at E14.5 did not occur

failure of palatal shelf elevation ( J:90397 )

• the tongue prevents the elevation of palate shelves in homozygous mice and is a possible consequence of the small jaw

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Miller-Dieker lissencephaly syndrome		DOID:0060469	OMIM:247200	J:90397

Genotype
MGI:3718675

cn3

• Allelic Composition: Mnt^tm1Awb/Mnt^tm1.1Awb; Tg(MMTV-cre)4Mam/?
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

neoplasm

increased mammary adenocarcinoma incidence ( J:110115 )

• in 7 of 11 continuously mated females with tumor latency ranging from 6 to 24 months compared to control mice that do not develop tumors some tumors show lymphocyte invasion

• tumors are invasive carcinomas that include solid tubular carcinomas, tubular carcinomas and carcinomas with sarcomatous changes

• tumors display ductal enlargement that may or may not be pre-existing

endocrine/exocrine glands

abnormal mammary gland morphology ( J:110115 )

♀ • involution is delayed at I2, I5, and I16

♀ • apoptosis levels peak at day 5 of involution compared to day 2 in wild-type mice

♀ • apoptosis in the alveoli and ducts is delayed and fewer cells undergo apoptosis

abnormal involution of the mammary gland ( J:110115 )

♀ • during involution after weaning, mice display enlarged ducts

♀ • after involution ducts remain enlarged

♀ • nonvirgin females exhibit 90% enlarged ducts compared to 40% in nonvirgin control mice and virgin mice exhibit 50% enlarged ducts compared to 30% in virgin control mice

increased mammary adenocarcinoma incidence ( J:110115 )

• in 7 of 11 continuously mated females with tumor latency ranging from 6 to 24 months compared to control mice that do not develop tumors some tumors show lymphocyte invasion

• tumors are invasive carcinomas that include solid tubular carcinomas, tubular carcinomas and carcinomas with sarcomatous changes

• tumors display ductal enlargement that may or may not be pre-existing

integument

abnormal mammary gland morphology ( J:110115 )

♀ • involution is delayed at I2, I5, and I16

♀ • apoptosis levels peak at day 5 of involution compared to day 2 in wild-type mice

♀ • apoptosis in the alveoli and ducts is delayed and fewer cells undergo apoptosis

abnormal involution of the mammary gland ( J:110115 )

♀ • during involution after weaning, mice display enlarged ducts

♀ • after involution ducts remain enlarged

♀ • nonvirgin females exhibit 90% enlarged ducts compared to 40% in nonvirgin control mice and virgin mice exhibit 50% enlarged ducts compared to 30% in virgin control mice

increased mammary adenocarcinoma incidence ( J:110115 )

• in 7 of 11 continuously mated females with tumor latency ranging from 6 to 24 months compared to control mice that do not develop tumors some tumors show lymphocyte invasion

• tumors are invasive carcinomas that include solid tubular carcinomas, tubular carcinomas and carcinomas with sarcomatous changes

• tumors display ductal enlargement that may or may not be pre-existing